Hostname: page-component-cd9895bd7-dzt6s Total loading time: 0 Render date: 2024-12-23T18:46:25.920Z Has data issue: false hasContentIssue false
  • English
  • Français

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

Published online by Cambridge University Press:  08 September 2015

Benjamin J. Landis ,
David S. Cooper  and
Robert B. Hinton
Benjamin J. Landis*
Affiliation:
Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
David S. Cooper
Affiliation:
Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
Robert B. Hinton
Affiliation:
Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
*
Correspondence to: B. J. Landis, MD, Division of Pediatric Cardiology, Indiana University School of Medicine, Indianapolis, IN 46202, United States of America. Tel: 317 278 2807; Fax: 317 274 8679; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome.

Keywords

CHDsyndromegenetic
Type
Review Articles
Information
Cardiology in the Young , Volume 26 , Supplement 1 , January 2016 , pp. 30 - 52
Check for updates
Copyright
© Cambridge University Press 2015 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Hoffman, JI. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 1995; 16: 103–113.CrossRefGoogle ScholarPubMed
2. Reller, MD, Strickland, MJ, Riehle-Colarusso, T, Mahle, WT, Correa, A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998–2005. J Pediatr 2008; 153: 807–813.CrossRefGoogle ScholarPubMed
3. Hoffman, JI, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890–1900.CrossRefGoogle ScholarPubMed
4. Pierpont, ME, Basson, CT, Benson, DW Jr, et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 3015–3038.Google Scholar
5. Stoll, C, Dott, B, Alembik, Y, Roth, M. Associated noncardiac congenital anomalies among cases with congenital heart defects. Eur J Med Genet 2014; 58: 75–85.CrossRefGoogle ScholarPubMed
6. Ferencz, C, Neill, CA, Boughman, JA, et al. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 1989; 114: 79–86.Google Scholar
7. Eskedal, L, Hagemo, P, Eskild, A, et al. A population-based study of extra-cardiac anomalies in children with congenital cardiac malformations. Cardiol Young 2004; 14: 600–607.CrossRefGoogle ScholarPubMed
8. Fuller, S, Nord, AS, Gerdes, M, et al. Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. Eur J Cardiothorac Surg 2009; 36: 40–47.Google Scholar
9. Oyen, N, Poulsen, G, Boyd, HA, et al. Recurrence of congenital heart defects in families. Circulation 2009; 120: 295–301.CrossRefGoogle ScholarPubMed
10. Hinton, RB Jr, Martin, LJ, Tabangin, ME, et al. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol 2007; 50: 1590–1595.CrossRefGoogle ScholarPubMed
11. Schott, JJ, Benson, DW, Basson, CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281: 108–111.CrossRefGoogle ScholarPubMed
12. Chen, Y, Han, ZQ, Yan, WD, et al. A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. J Thorac Cardiovasc Surg 2010; 140: 684–687.Google Scholar
13. Garg, V, Muth, AN, Ransom, JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005; 437: 270–274.Google Scholar
14. Fahed, AC, Gelb, BD, Seidman, JG, Seidman, CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013; 112: 707–720.Google Scholar
15. Zaidi, S, Choi, M, Wakimoto, H, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013; 498: 220–223.CrossRefGoogle ScholarPubMed
16. Glessner, J, Bick, AG, Ito, K, et al. Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data. Circ Res 2014; 115: 884–896.Google Scholar
17. Marino, BS, Lipkin, PH, Newburger, JW, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation 2012; 126: 1143–1172.CrossRefGoogle ScholarPubMed
18. Marino, BS, Tomlinson, RS, Wernovsky, G, et al. Validation of the pediatric cardiac quality of life inventory. Pediatrics 2010; 126: 498–508.CrossRefGoogle ScholarPubMed
19. Gilboa, SM, Salemi, JL, Nembhard, WN, Fixler, DE, Correa, A. Mortality resulting from congenital heart disease among children and adults in the United States, 1999 to 2006. Circulation 2010; 122: 2254–2263.Google Scholar
20. Bronicki, RA, Chang, AC. Management of the postoperative pediatric cardiac surgical patient. Crit Care Med 2011; 39: 1974–1984.Google Scholar
21. Simsic, JM, Coleman, K, Maher, KO, Cuadrado, A, Kirshbom, PM. Do neonates with genetic abnormalities have an increased morbidity and mortality following cardiac surgery? Congenit Heart Dis 2009; 4: 160–165.Google Scholar
22. Doell, C, Bernet, V, Molinari, L, et al. Children with genetic disorders undergoing open-heart surgery: are they at increased risk for postoperative complications? Pediatr Crit Care Med 2011; 12: 539–544.CrossRefGoogle ScholarPubMed
23. Barker, GM, O’Brien, SM, Welke, KF, et al. Major infection after pediatric cardiac surgery: a risk estimation model. Ann Thorac Surg 2010; 89: 843–850.Google Scholar
24. Kagen, J, Lautenbach, E, Bilker, WB, et al. Risk factors for mediastinitis following median sternotomy in children. Pediatr Infect Dis J 2007; 26: 613–618.CrossRefGoogle ScholarPubMed
25. Patel, A, Hickey, E, Mavroudis, C, et al. Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome. Ann Thorac Surg 2010; 89: 1805–1813; (discussion 1813–1814).Google Scholar
26. Stasik, CN, Gelehrter, S, Goldberg, CS, et al. Current outcomes and risk factors for the Norwood procedure. J Thorac Cardiovasc Surg 2006; 131: 412–417.Google Scholar
27. Jacobs, JP, O’Brien, SM, Chai, PJ, et al. Management of 239 patients with hypoplastic left heart syndrome and related malformations from 1993 to 2007. Ann Thorac Surg 2008; 85: 1691–1696; (discussion 7).Google Scholar
28. Tabbutt, S, Ghanayem, N, Ravishankar, C, et al. Risk factors for hospital morbidity and mortality after the Norwood procedure: a report from the Pediatric Heart Network Single Ventricle Reconstruction trial. J Thorac Cardiovasc Surg 2012; 144: 882–895.CrossRefGoogle ScholarPubMed
29. Gaynor, JW, Mahle, WT, Cohen, MI, et al. Risk factors for mortality after the Norwood procedure. Eur J Cardiothorac Surg 2002; 22: 82–89.Google Scholar
30. Hornik, CP, He, X, Jacobs, JP, et al. Complications after the Norwood operation: an analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg 2011; 92: 1734–1740.CrossRefGoogle Scholar
31. Michielon, G, Marino, B, Oricchio, G, et al. Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg 2009; 138: 565–570.e2.Google Scholar
32. Michielon, G, Marino, B, Formigari, R, et al. Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg 2006; 81: 968–975.CrossRefGoogle ScholarPubMed
33. Anaclerio, S, Di Ciommo, V, Michielon, G, et al. Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J 2004; 5: 624–628.Google Scholar
34. Bull, MJ. Health supervision for children with Down syndrome. Pediatrics 2011; 128: 393–406.Google Scholar
35. Cocchi, G, Gualdi, S, Bower, C, et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol 2010; 88: 474–479.CrossRefGoogle ScholarPubMed
36. Freeman, SB, Taft, LF, Dooley, KJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998; 80: 213–217.Google Scholar
37. Evans, JM, Dharmar, M, Meierhenry, E, Marcin, JP, Raff, GW. Association between Down syndrome and in-hospital death among children undergoing surgery for congenital heart disease: a US population-based study. Circ Cardiovasc Qual Outcomes 2014; 7: 445–452.CrossRefGoogle ScholarPubMed
38. Seifert, HA, Howard, DL, Silber, JH, Jobes, DR. Female gender increases the risk of death during hospitalization for pediatric cardiac surgery. J Thorac Cardiovasc Surg 2007; 133: 668–675.Google Scholar
39. Fudge, JC Jr, Li, S, Jaggers, J, et al. Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database. Pediatrics 2010; 126: 315–322.CrossRefGoogle ScholarPubMed
40. Morris, CD, Magilke, D, Reller, M. Down’s syndrome affects results of surgical correction of complete atrioventricular canal. Pediatr Cardiol 1992; 13: 80–84.CrossRefGoogle ScholarPubMed
41. Reller, MD, Morris, CD. Is Down syndrome a risk factor for poor outcome after repair of congenital heart defects? J Pediatr 1998; 132: 738–741.Google Scholar
42. St Louis, JD, Jodhka, U, Jacobs, JP, et al. Contemporary outcomes of complete atrioventricular septal defect repair: analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. J Thorac Cardiovasc Surg 2014; 148: 2526–2531.CrossRefGoogle Scholar
43. Formigari, R, Di Donato, RM, Gargiulo, G, et al. Better surgical prognosis for patients with complete atrioventricular septal defect and Down’s syndrome. Ann Thorac Surg 2004; 78: 666–672; (discussion 72).Google Scholar
44. Al-Hay, AA, MacNeill, SJ, Yacoub, M, Shore, DF, Shinebourne, EA. Complete atrioventricular septal defect, Down syndrome, and surgical outcome: risk factors. Ann Thorac Surg 2003; 75: 412–421.CrossRefGoogle ScholarPubMed
45. Alexi-Meskishvili, V, Ishino, K, Dahnert, I, et al. Correction of complete atrioventricular septal defects with the double-patch technique and cleft closure. Ann Thorac Surg 1996; 62: 519–524; (discussion 524–525).Google Scholar
46. Lange, R, Guenther, T, Busch, R, Hess, J, Schreiber, C. The presence of Down syndrome is not a risk factor in complete atrioventricular septal defect repair. J Thorac Cardiovasc Surg 2007; 134: 304–310.Google Scholar
47. Tucker, EM, Pyles, LA, Bass, JL, Moller, JH. Permanent pacemaker for atrioventricular conduction block after operative repair of perimembranous ventricular septal defect. J Am Coll Cardiol 2007; 50: 1196–1200.Google Scholar
48. Desai, AR, Branco, RG, Comitis, GA, et al. Early postoperative outcomes following surgical repair of complete atrioventricular septal defects: is Down syndrome a risk factor? Pediatr Crit Care Med 2014; 15: 35–41.Google Scholar
49. Mulder, TJ, Pyles, LA, Stolfi, A, Pickoff, AS, Moller, JH. A multicenter analysis of the choice of initial surgical procedure in tetralogy of Fallot. Pediatr Cardiol 2002; 23: 580–586.Google Scholar
50. Gupta-Malhotra, M, Larson, VE, Rosengart, RM, Guo, H, Moller, JH. Mortality after total cavopulmonary connection in children with the Down syndrome. Am J Cardiol 2010; 105: 865–868.Google Scholar
51. Furukawa, T, Park, IS, Yoshikawa, T, et al. Outcome of univentricular repair in patients with Down syndrome. J Thorac Cardiovasc Surg 2013; 146: 1349–1352.Google Scholar
52. Levine, OR, Simpser, M. Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. Clin Pediatr 1982; 21: 25–29.Google Scholar
53. Southall, DP, Stebbens, VA, Mirza, R, et al. Upper airway obstruction with hypoxaemia and sleep disruption in Down syndrome. Dev Med Child Neurol 1987; 29: 734–742.Google Scholar
54. Stebbens, VA, Dennis, J, Samuels, MP, Croft, CB, Southall, DP. Sleep related upper airway obstruction in a cohort with Down’s syndrome. Arch Dis Child 1991; 66: 1333–1338.Google Scholar
55. Shott, SR. Down syndrome: common otolaryngologic manifestations. Am J Med Genet C Semin Med Genet 2006; 142C: 131–140.CrossRefGoogle ScholarPubMed
56. Bezold, LI, Pignatelli, R, Altman, CA, et al. Intraoperative transesophageal echocardiography in congenital heart surgery. The Texas Children’s Hospital experience. Tex Heart Inst J 1996; 23: 108–115.Google Scholar
57. Hilberath, JN, Oakes, DA, Shernan, SK, et al. Safety of transesophageal echocardiography. J Am Soc Echocardiogr 2010; 23: 1115–1127; (quiz 1220–1221).Google Scholar
58. Cooney, TP, Thurlbeck, WM. Pulmonary hypoplasia in Down’s syndrome. N Engl J Med 1982; 307: 1170–1173.CrossRefGoogle ScholarPubMed
59. McDowell, KM, Craven, DI. Pulmonary complications of Down syndrome during childhood. J Pediatr 2011; 158: 319–325.CrossRefGoogle ScholarPubMed
60. Rutigliani, M, Boccardo, F, Campisi, C, et al. Immunohistochemical studies in a hydroptic fetus with pulmonary lymphangiectasia and trisomy 21. Lymphology 2007; 40: 114–121.Google Scholar
61. Turan, O, Canter, B, Ergenekon, E, Koc, E, Atalay, Y. Chylothorax and respiratory distress in a newborn with trisomy 21. Eur J Pediatr 2001; 160: 744–745.CrossRefGoogle Scholar
62. Miera, O, Mildenberger, E, van Baalen, A, Fuhr, N. Neonatal chylothorax with trisomy 21. Z Geburtshilfe Neonatol 2004; 208: 29–31.Google Scholar
63. Ochiai, M, Hikino, S, Nakayama, H, et al. Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21. Am J Perinatol 2006; 23: 63–66.Google Scholar
64. Ip, P, Chiu, CS, Cheung, YF. Risk factors prolonging ventilation in young children after cardiac surgery: impact of noninfectious pulmonary complications. Pediatr Crit Care Med 2002; 3: 269–274.Google Scholar
65. Morray, JP, Mac Gillivray, R, Duker, G. Increased perioperative risk following repair of congenital heart disease in Down’s syndrome. Anesthesiology 1986; 65: 221–224.CrossRefGoogle ScholarPubMed
66. Campbell, RM, Benson, LN, Williams, WW, Adatia, I. Chylopericardium after cardiac operations in children. Ann Thorac Surg 2001; 72: 193–196.Google Scholar
67. Harrison, AM, Cox, AC, Davis, S, et al. Failed extubation after cardiac surgery in young children: prevalence, pathogenesis, and risk factors. Pediatr Crit Care Med 2002; 3: 148–152.Google Scholar
68. Kusters, MA, Verstegen, RH, Gemen, EF, de Vries, E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol 2009; 156: 189–193.CrossRefGoogle ScholarPubMed
69. Ram, G, Chinen, J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 2011; 164: 9–16.Google Scholar
70. Malec, E, Mroczek, T, Pajak, J, Januszewska, K, Zdebska, E. Results of surgical treatment of congenital heart defects in children with Down’s syndrome. Pediatr Cardiol 1999; 20: 351–354.CrossRefGoogle ScholarPubMed
71. Roussot, MA, Lawrenson, JB, Hewitson, J, Smart, R, De Decker, HP. Is cardiac surgery warranted in children with Down syndrome? A case-controlled review. S Afr Med J 2006; 96 (Pt 2): 924–930.Google Scholar
72. Murphy, J, Philip, M, Macken, S, et al. Thyroid dysfunction in Down’s syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement. J Pediatr Endocrinol Metab 2008; 21: 155–163.Google Scholar
73. Gibson, PA, Newton, RW, Selby, K, et al. Longitudinal study of thyroid function in Down’s syndrome in the first two decades. Arch Dis Child 2005; 90: 574–578.Google Scholar
74. Talwar, S, Khadgawat, R, Sandeep, JA, et al. Cardiopulmonary bypass and serum thyroid hormone profile in pediatric patients with congenital heart disease. Congenit Heart Dis 2012; 7: 433–440.Google Scholar
75. Plumpton, KR, Anderson, BJ, Beca, J. Thyroid hormone and cortisol concentrations after congenital heart surgery in infants younger than 3 months of age. Intensive Care Med 2010; 36: 321–328.Google Scholar
76. Davidson, RG. Atlantoaxial instability in individuals with Down syndrome: a fresh look at the evidence. Pediatrics 1988; 81: 857–865.CrossRefGoogle Scholar
77. Goldberg-Stern, H, Strawsburg, RH, Patterson, B, et al. Seizure frequency and characteristics in children with Down syndrome. Brain Dev 2001; 23: 375–378.Google Scholar
78. Tezenas Du Montcel, S, Mendizabai, H, Ayme, S, Levy, A, Philip, N. Prevalence of 22q11 microdeletion. J Med Genet 1996; 33: 719.CrossRefGoogle ScholarPubMed
79. Goodship, J, Cross, I, LiLing, J, Wren, C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998; 79: 348–351.Google Scholar
80. Bassett, AS, McDonald-McGinn, DM, Devriendt, K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159: 332–339.e1.Google Scholar
81. Ryan, AK, Goodship, JA, Wilson, DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798–804.Google Scholar
82. Goldmuntz, E, Clark, BJ, Mitchell, LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998; 32: 492–498.CrossRefGoogle ScholarPubMed
83. McElhinney, DB, Clark, BJ 3rd, Weinberg, PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001; 37: 2114–2119.Google Scholar
84. McElhinney, DB, Driscoll, DA, Levin, ER, et al. Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 2003; 112 (Pt 1): e472.Google Scholar
85. Marmon, LM, Balsara, RK, Chen, R, Dunn, JM. Congenital cardiac anomalies associated with the DiGeorge syndrome: a neonatal experience. Ann Thorac Surg 1984; 38: 146–150.Google Scholar
86. Mercer-Rosa, L, Pinto, N, Yang, W, Tanel, R, Goldmuntz, E. 22q11.2 deletion syndrome is associated with perioperative outcome in tetralogy of Fallot. J Thorac Cardiovasc Surg 2013; 146: 868–873.Google Scholar
87. O’Byrne, ML, Yang, W, Mercer-Rosa, L, et al. 22q11.2 deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch. J Thorac Cardiovasc Surg 2014; 148: 1597–1605.Google Scholar
88. McDonald, R, Dodgen, A, Goyal, S, et al. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol 2013; 34: 341–347.Google Scholar
89. Reddy, VM, McElhinney, DB, Amin, Z, et al. Early and intermediate outcomes after repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: experience with 85 patients. Circulation 2000; 101: 1826–1832.Google Scholar
90. Mahle, WT, Crisalli, J, Coleman, K, et al. Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann Thorac Surg 2003; 76: 567–571.Google Scholar
91. Carotti, A, Marino, B, Di Donato, RM. Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of Fallot with pulmonary atresia. J Thorac Cardiovasc Surg 2003; 126: 1666–1667.Google Scholar
92. Carotti, A, Albanese, SB, Di Donato, RM. Unifocalization and repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. Acta Paediatr Suppl 2006; 95: 22–26.Google Scholar
93. Carotti, A, Albanese, SB, Filippelli, S, et al. Determinants of outcome after surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. J Thorac Cardiovasc Surg 2010; 140: 1092–1103.Google Scholar
94. Yotsui-Tsuchimochi, H, Higa, K, Matsunaga, M, Nitahara, K, Shono, S. Anesthetic management of a child with chromosome 22q11 deletion syndrome. Paediatr Anaesth 2006; 16: 454–457.Google Scholar
95. McElhinney, DB, Jacobs, I, McDonald-McGinn, DM, Zackai, EH, Goldmuntz, E. Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Pediatr Otorhinolaryngol 2002; 66: 23–27.Google Scholar
96. Yamagishi, H, Maeda, J, Higuchi, M, et al. Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. Clin Genet 2002; 62: 214–219.Google Scholar
97. Ackerman, MJ, Wylam, ME, Feldt, RH, et al. Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness. J Thorac Cardiovasc Surg 2001; 122: 169–177.CrossRefGoogle ScholarPubMed
98. Asija, R, Hanley, FL, Roth, SJ. Postoperative respiratory failure in children with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals: a pilot study. Pediatr Crit Care Med 2013; 14: 384–389.Google Scholar
99. Ziolkowska, L, Kawalec, W, Turska-Kmiec, A, et al. Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery. Eur J Pediatr 2008; 167: 1135–1140.Google Scholar
100. Jatana, V, Gillis, J, Webster, BH, Ades, LC. Deletion 22q11.2 syndrome – implications for the intensive care physician. Pediatr Crit Care Med 2007; 8: 459–463; (quiz 64).Google Scholar
101. Kobrynski, LJ, Sullivan, KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007; 370: 1443–1452.Google Scholar
102. Patel, K, Akhter, J, Kobrynski, L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. J Pediatr 2012; 161: 950–953.Google Scholar
103. Smith, CA, Driscoll, DA, Emanuel, BS, et al. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 1998; 5: 415–417.Google Scholar
104. Carotti, A, Digilio, MC, Piacentini, G, et al. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 2008; 14: 35–42.Google Scholar
105. Cheung, EN, George, SR, Costain, GA, et al. Prevalence of hypocalcaemia and its associated features in 22q11.2 deletion syndrome. Clin Endocrinol 2014; 81: 190–196.Google Scholar
106. Cheung, EN, George, SR, Andrade, DM, et al. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genet Med 2014; 16: 40–44.CrossRefGoogle ScholarPubMed
107. Stagi, S, Lapi, E, Gambineri, E, et al. Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). Clin Endocrinol 2010; 72: 839–844.Google Scholar
108. Naqvi, N, Davidson, SJ, Wong, D, et al. Predicting 22q11.2 deletion syndrome: a novel method using the routine full blood count. Int J Cardiol 2011; 150: 50–53.Google Scholar
109. Latger-Cannard, V, Bensoussan, D, Gregoire, MJ, et al. Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome. Eur J Pediatr 2004; 163: 327–328.CrossRefGoogle ScholarPubMed
110. Liang, HP, Morel-Kopp, MC, Curtin, J, et al. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thromb Haemost 2007; 98: 1298–1308.Google Scholar
111. Kato, T, Kosaka, K, Kimura, M, et al. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med 2003; 5: 113–119.Google Scholar
112. Nakagawa, M, Okuno, M, Okamoto, N, Fujino, H, Kato, H. Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Am J Med Genet 2001; 99: 286–288.Google Scholar
113. Stewart, TL, Irons, MB, Cowan, JM, Bianchi, DW. Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology 1999; 59: 20–22.3.0.CO;2-S>CrossRefGoogle ScholarPubMed
114. Shashi, V, Berry, MN, Hines, MH. Vasomotor instability in neonates with chromosome 22q11 deletion syndrome. Am J Med Genet A 2003; 121A: 231–234.Google Scholar
115. Lin, AE, Ticho, BS, Houde, K, Westgate, MN, Holmes, LB. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med 2000; 2: 157–172.Google Scholar
116. Sutherland, MJ, Ware, SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet 2009; 151C: 307–317.Google Scholar
117. Jacobs, JP, Anderson, RH, Weinberg, PM, et al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young 2007; 17 (Suppl 2): 1–28.Google Scholar
118. Lim, JS, McCrindle, BW, Smallhorn, JF, et al. Clinical features, management, and outcome of children with fetal and postnatal diagnoses of isomerism syndromes. Circulation 2005; 112: 2454–2461.Google Scholar
119. Yildirim, SV, Tokel, K, Varan, B, Aslamaci, S, Ekici, E. Clinical investigations over 13 years to establish the nature of the cardiac defects in patients having abnormalities of lateralization. Cardiol Young 2007; 17: 275–282.Google Scholar
120. Freedom, RM, Jaeggi, ET, Lim, JS, Anderson, RH. Hearts with isomerism of the right atrial appendages – one of the worst forms of disease in 2005. Cardiol Young 2005; 15: 554–567.Google Scholar
121. Gilljam, T, McCrindle, BW, Smallhorn, JF, Williams, WG, Freedom, RM. Outcomes of left atrial isomerism over a 28-year period at a single institution. J Am Coll Cardiol 2000; 36: 908–916.CrossRefGoogle Scholar
122. Azakie, A, Merklinger, SL, Williams, WG, et al. Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. Ann Thorac Surg 2001; 72: 1636–1640.Google Scholar
123. Stamm, C, Friehs, I, Duebener, LF, et al. Improving results of the modified Fontan operation in patients with heterotaxy syndrome. Ann Thorac Surg 2002; 74: 1967–1977; (discussion 78).CrossRefGoogle ScholarPubMed
124. Kim, SJ, Kim, WH, Lim, HG, Lee, JY. Outcome of 200 patients after an extracardiac Fontan procedure. J Thorac Cardiovasc Surg 2008; 136: 108–116.Google Scholar
125. Wren, C, Macartney, FJ, Deanfield, JE. Cardiac rhythm in atrial isomerism. Am J Cardiol 1987; 59: 1156–1158.CrossRefGoogle ScholarPubMed
126. Wu, MH, Wang, JK, Lin, JL, et al. Supraventricular tachycardia in patients with right atrial isomerism. J Am Coll Cardiol 1998; 32: 773–779.Google Scholar
127. Anagnostopoulos, PV, Pearl, JM, Octave, C, et al. Improved current era outcomes in patients with heterotaxy syndromes. Eur J Cardiothorac Surg 2009; 35: 871–877; (discussion 877–888).Google Scholar
128. Wessels, MW, De Graaf, BM, Cohen-Overbeek, TE, et al. A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet 2008; 122: 595–603.Google Scholar
129. Jacobs, JP, Pasquali, SK, Morales, DL, et al. Heterotaxy: lessons learned about patterns of practice and outcomes from the congenital heart surgery database of the society of thoracic surgeons. World J Pediatr Congenit Heart Surg 2011; 2: 278–286.Google Scholar
130. Swisher, M, Jonas, R, Tian, X, et al. Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy. J Thorac Cardiovasc Surg 2011; 141: 637–644.Google Scholar
131. Ota, N, Fujimoto, Y, Murata, M, et al. Improving outcomes of the surgical management of right atrial isomerism. Ann Thorac Surg 2012; 93: 832–838; (discussion 838–839).Google Scholar
132. Hashmi, A, Abu-Sulaiman, R, McCrindle, BW, et al. Management and outcomes of right atrial isomerism: a 26-year experience. J Am Coll Cardiol 1998; 31: 1120–1126.Google Scholar
133. Jenkins, KJ, Sanders, SP, Orav, EJ, et al. Individual pulmonary vein size and survival in infants with totally anomalous pulmonary venous connection. J Am Coll Cardiol 1993; 22: 201–206.CrossRefGoogle ScholarPubMed
134. Morales, DL, Braud, BE, Booth, JH, et al. Heterotaxy patients with total anomalous pulmonary venous return: improving surgical results. Ann Thorac Surg 2006; 82: 1621–1627; (discussion 1627–1628).Google Scholar
135. Bartz, PJ, Driscoll, DJ, Dearani, JA, et al. Early and late results of the modified Fontan operation for heterotaxy syndrome 30 years of experience in 142 patients. J Am Coll Cardiol 2006; 48: 2301–2305.Google Scholar
136. Humes, RA, Feldt, RH, Porter, CJ, et al. The modified Fontan operation for asplenia and polysplenia syndromes. J Thorac Cardiovasc Surg 1988; 96: 212–218.Google Scholar
137. Larsen, RL, Eguchi, JH, Mulla, NF, et al. Usefulness of cardiac transplantation in children with visceral heterotaxy (asplenic and polysplenic syndromes and single right-sided spleen with levocardia) and comparison of results with cardiac transplantation in children with dilated cardiomyopathy. Am J Cardiol 2002; 89: 1275–1279.Google Scholar
138. Jacobs, JP, Asante-Korang, A, O’Brien, SM, et al. Lessons learned from 119 consecutive cardiac transplants for pediatric and congenital heart disease. Ann Thorac Surg 2011; 91: 1248–1254; (discussion 1254–1255).Google Scholar
139. Nakhleh, N, Francis, R, Giese, RA, et al. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation 2012; 125: 2232–2242.Google Scholar
140. Harden, B, Tian, X, Giese, R, et al. Increased postoperative respiratory complications in heterotaxy congenital heart disease patients with respiratory ciliary dysfunction. J Thorac Cardiovasc Surg 2014; 147: 1291–1298.e2.Google Scholar
141. Shiima-Kinoshita, C, Min, KY, Hanafusa, T, Mori, H, Nakahari, T. Beta 2-adrenergic regulation of ciliary beat frequency in rat bronchiolar epithelium: potentiation by isosmotic cell shrinkage. J Physiol 2004; 554 (Pt 2): 403–416.Google Scholar
142. Anderson, C, Devine, WA, Anderson, RH, Debich, DE, Zuberbuhler, JR. Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children. Br Heart J 1990; 63: 122–128.Google Scholar
143. Waldman, JD, Rosenthal, A, Smith, AL, Shurin, S, Nadas, AS. Sepsis and congenital asplenia. J Pediatr 1977; 90: 555–559.Google Scholar
144. de Porto, AP, Lammers, AJ, Bennink, RJ, et al. Assessment of splenic function. Eur J Clin Microbiol Infect Dis 2010; 29: 1465–1473.CrossRefGoogle ScholarPubMed
145. Serraf, A, Bensari, N, Houyel, L, et al. Surgical management of congenital heart defects associated with heterotaxy syndrome. Eur J Cardiothorac Surg 2010; 38: 721–727.Google Scholar
146. Williams, GD, Feng, A. Heterotaxy syndrome: implications for anesthesia management. J Cardiothorac Vasc Anesth 2010; 24: 834–844.Google Scholar
147. Ticho, BS, Goldstein, AM, Van Praagh, R. Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. Am J Cardiol 2000; 85: 729–734.Google Scholar
148. Nielsen, J, Wohlert, M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990; 26: 209–223.Google Scholar
149. Bondy, CA. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007; 92: 10–25.Google Scholar
150. Frias, JL, Davenport, ML. Health supervision for children with Turner syndrome. Pediatrics 2003; 111: 692–702.Google Scholar
151. Surerus, E, Huggon, IC, Allan, LD. Turner’s syndrome in fetal life. Ultrasound Obstet Gynecol 2003; 22: 264–267.Google Scholar
152. Ho, VB, Bakalov, VK, Cooley, M, et al. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004; 110: 1694–1700.Google Scholar
153. Dawson-Falk, KL, Wright, AM, Bakker, B, et al. Cardiovascular evaluation in Turner syndrome: utility of MR imaging. Australas Radiol 1992; 36: 204–209.Google Scholar
154. Bondy, CA. Congenital cardiovascular disease in Turner syndrome. Congenit Heart Dis 2008; 3: 2–15.Google Scholar
155. Gotzsche, CO, Krag-Olsen, B, Nielsen, J, Sorensen, KE, Kristensen, BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child 1994; 71: 433–436.Google Scholar
156. Wong, SC, Burgess, T, Cheung, M, Zacharin, M. The prevalence of turner syndrome in girls presenting with coarctation of the aorta. J Pediatr 2014; 164: 259–263.CrossRefGoogle ScholarPubMed
157. Matura, LA, Ho, VB, Rosing, DR, Bondy, CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116: 1663–1670.Google Scholar
158. Carlson, M, Airhart, N, Lopez, L, Silberbach, M. Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the international Turner syndrome aortic dissection registry. Circulation 2012; 126: 2220–2226.Google Scholar
159. Bondy, CA, Ceniceros, I, Van, PL, Bakalov, VK, Rosing, DR. Prolonged rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome. Pediatrics 2006; 118: e1220–e1225.Google Scholar
160. Cramer, JW, Bartz, PJ, Simpson, PM, Zangwill, SD. The spectrum of congenital heart disease and outcomes after surgical repair among children with Turner syndrome: a single-center review. Pediatr Cardiol 2014; 35: 253–260.Google Scholar
161. Reis, PM, Punch, MR, Bove, EL, van de Ven, CJ. Outcome of infants with hypoplastic left heart and Turner syndromes. Obstet Gynecol 1999; 93: 532–535.Google Scholar
162. Ravelo, HR, Stephenson, LW, Friedman, S, et al. Coarctation resection in children with Turner’s syndrome: a note of caution. J Thorac Cardiovasc Surg 1980; 80: 427–430.Google Scholar
163. Brandt, B 3rd, Heintz, SE, Rose, EF, Ehrenhaft, JL, Clark, EB. Repair of coarctation of the aorta in children with Turner syndrome. Pediatr Cardiol 1984; 5: 175–177.Google Scholar
164. Oza, NM, Siegenthaler, M, Horvath, K, et al. Serious aortic complications in a patient with Turner syndrome. Eur J Pediatr 2013; 172: 703–705.Google Scholar
165. Badmanaban, B, Mole, D, Sarsam, MA. Descending aortic dissection post coarctation repair in a patient with Turner’s syndrome. J Card Surg 2003; 18: 153–154.Google Scholar
166. Fejzic, Z, van Oort, A. Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner’s syndrome. Cardiol Young 2005; 15: 529–531.Google Scholar
167. Kataoka, K, Ozawa, A, Inage, A, Benson, LN. Transcatheter repair of native coarctation in children with Turner syndrome: three case reports and literature review. Congenit Heart Dis 2006; 1: 315–320.Google Scholar
168. Zanjani, KS, Thanopoulos, BD, Peirone, A, Alday, L, Giannakoulas, G. Usefulness of stenting in aortic coarctation in patients with the Turner syndrome. Am J Cardiol 2010; 106: 1327–1331.Google Scholar
169. Bellini, C, Boccardo, F, Campisi, C, Bonioli, E. Congenital pulmonary lymphangiectasia. Orphanet J Rare Dis 2006; 1: 43.Google Scholar
170. Gawlik, A, Gawlik, T, Januszek-Trzciakowska, A, Patel, H, Malecka-Tendera, E. Incidence and dynamics of thyroid dysfunction and thyroid autoimmunity in girls with Turner’s syndrome: a long-term follow-up study. Horm Res Paediatr 2011; 76: 314–320.Google Scholar
171. Stromme, P, Bjornstad, PG, Ramstad, K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17: 269–271.Google Scholar
172. Pober, BR. Williams-Beuren syndrome. N Engl J Med 2010; 362: 239–252.Google Scholar
173. Collins, RT 2nd. Cardiovascular disease in Williams syndrome. Circulation 2013; 127: 2125–2134.Google Scholar
174. Wren, C, Oslizlok, P, Bull, C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol 1990; 15: 1625–1630.Google Scholar
175. Giddins, NG, Finley, JP, Nanton, MA, Roy, DL. The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in William’s syndrome. Br Heart J 1989; 62: 315–319.Google Scholar
176. Del Pasqua, A, Rinelli, G, Toscano, A, et al. New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiol Young 2009; 19: 563–567.Google Scholar
177. Wessel, A, Pankau, R, Kececioglu, D, Ruschewski, W, Bursch, JH. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet 1994; 52: 297–301.Google Scholar
178. Collins, RT 2nd, Kaplan, P, Somes, GW, Rome, JJ. Long-term outcomes of patients with cardiovascular abnormalities and Williams syndrome. Am J Cardiol 2010; 105: 874–878.Google Scholar
179. Stamm, C, Friehs, I, Moran, AM, et al. Surgery for bilateral outflow tract obstruction in elastin arteriopathy. J Thorac Cardiovasc Surg 2000; 120: 755–763.Google Scholar
180. Deo, SV, Burkhart, HM, Schaff, HV, et al. Late outcomes for surgical repair of supravalvar aortic stenosis. Ann Thorac Surg 2012; 94: 854–859.Google Scholar
181. Monge, MC, Mainwaring, RD, Sheikh, AY, et al. Surgical reconstruction of peripheral pulmonary artery stenosis in Williams and Alagille syndromes. J Thorac Cardiovasc Surg 2013; 145: 476–481.Google Scholar
182. Apostolopoulou, SC, Kelekis, NL, Laskari, C, Kaklamanis, L, Rammos, S. Restenosis and pseudoaneurysm formation after stent placement for aortic coarctation in Williams syndrome. J Vasc Interv Radiol 2002; 13: 547–548.Google Scholar
183. Mookerjee, J, Roebuck, D, Derrick, G. Restenosis after aortic stenting. Cardiol Young 2004; 14: 210–211.Google Scholar
184. Collins, RT 2nd, Kaplan, P, Rome, JJ. Stenosis of the thoracic aorta in Williams syndrome. Pediatr Cardiol 2010; 31: 829–833.Google Scholar
185. Pham, PP, Moller, JH, Hills, C, Larson, V, Pyles, L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol 2009; 30: 9–14.Google Scholar
186. Geggel, RL, Gauvreau, K, Lock, JE. Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome. Circulation 2001; 103: 2165–2170.Google Scholar
187. Burch, TM, McGowan, FX Jr, Kussman, BD, Powell, AJ, DiNardo, JA. Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: what’s the mystery? Anesth Analg 2008; 107: 1848–1854.CrossRefGoogle ScholarPubMed
188. Bird, LM, Billman, GF, Lacro, RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr 1996; 129: 926–931.Google Scholar
189. Wessel, A, Gravenhorst, V, Buchhorn, R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A 2004; 127A: 234–237.Google Scholar
190. Conway, EE Jr, Noonan, J, Marion, RW, Steeg, CN. Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases. J Pediatr 1990; 117: 593–595.CrossRefGoogle ScholarPubMed
191. Stamm, C, Li, J, Ho, SY, Redington, AN, Anderson, RH. The aortic root in supravalvular aortic stenosis: the potential surgical relevance of morphologic findings. J Thorac Cardiovasc Surg 1997; 114: 16–24.Google Scholar
192. Bonnet, D, Cormier, V, Villain, E, Bonhoeffer, P, Kachaner, J. Progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams syndrome. Eur J Pediatr 1997; 156: 751–753.Google Scholar
193. van Pelt, NC, Wilson, NJ, Lear, G. Severe coronary artery disease in the absence of supravalvular stenosis in a patient with Williams syndrome. Pediatr Cardiol 2005; 26: 665–667.Google Scholar
194. Martin, EC, Moseley, IF. Supravalvar aortic stenosis. Br Heart J 1973; 35: 758–765.Google Scholar
195. Collins, RT 2nd, Aziz, PF, Gleason, MM, Kaplan, PB, Shah, MJ. Abnormalities of cardiac repolarization in Williams syndrome. Am J Cardiol 2010; 106: 1029–1033.Google Scholar
196. Collins, RT 2nd, Aziz, PF, Swearingen, CJ, Kaplan, PB. Relation of ventricular ectopic complexes to QTc interval on ambulatory electrocardiograms in Williams syndrome. Am J Cardiol 2012; 109: 1671–1676.Google Scholar
197. Broder, K, Reinhardt, E, Ahern, J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet 1999; 83: 356–360.Google Scholar
198. Kaplan, P, Levinson, M, Kaplan, BS. Cerebral artery stenoses in Williams syndrome cause strokes in childhood. J Pediatr 1995; 126: 943–945.Google Scholar
199. Stagi, S, Bindi, G, Neri, AS, et al. Thyroid function and morphology in patients affected by Williams syndrome. Clin Endocrinol 2005; 63: 456–460.Google Scholar
200. Medley, J, Russo, P, Tobias, JD. Perioperative care of the patient with Williams syndrome. Paediatr Anaesth 2005; 15: 243–247.Google Scholar
201. Cambiaso, P, Orazi, C, Digilio, MC, et al. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr 2007; 150: 62–65.Google Scholar
202. Committee on Genetics. American Academy of Pediatrics: health care supervision for children with Williams syndrome. Pediatrics 2001; 107: 1192–1204.Google Scholar
203. Stagi, S, Manoni, C, Salti, R, Cecchi, C, Chiarelli, F. Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome. Horm Res 2008; 70: 316–318.Google Scholar
204. Pankau, R, Partsch, CJ, Winter, M, Gosch, A, Wessel, A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 1996; 63: 301–304.Google Scholar
205. Sforzini, C, Milani, D, Fossali, E, et al. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. Pediatr Nephrol 2002; 17: 899–902.Google Scholar
206. Ingelfinger, JR, Newburger, JW. Spectrum of renal anomalies in patients with Williams syndrome. J Pediatr 1991; 119: 771–773.Google Scholar
207. Pober, BR, Lacro, RV, Rice, C, Mandell, V, Teele, RL. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet 1993; 46: 271–274.Google Scholar
208. Roberts, AE, Allanson, JE, Tartaglia, M, Gelb, BD. Noonan syndrome. Lancet 2013; 381: 333–342.Google Scholar
209. Romano, AA, Allanson, JE, Dahlgren, J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126: 746–759.Google Scholar
210. Roberts, A, Allanson, J, Jadico, SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006; 43: 833–842.Google Scholar
211. Cesarini, L, Alfieri, P, Pantaleoni, F, et al. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. Am J Med Genet A 2009; 149A: 140–146.Google Scholar
212. Axelrad, ME, Glidden, R, Nicholson, L, Gripp, KW. Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. Am J Med Genet A 2004; 128A: 396–400.Google Scholar
213. Prendiville, TW, Gauvreau, K, Tworog-Dube, E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014; 99: 629–634.Google Scholar
214. Hickey, EJ, Mehta, R, Elmi, M, et al. Survival implications: hypertrophic cardiomyopathy in Noonan syndrome. Congenit Heart Dis 2011; 6: 41–47.Google Scholar
215. Pandit, B, Sarkozy, A, Pennacchio, LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007; 39: 1007–1012.Google Scholar
216. Ishikawa, Y, Sekiguchi, K, Akasaka, Y, et al. Fibromuscular dysplasia of coronary arteries resulting in myocardial infarction associated with hypertrophic cardiomyopathy in Noonan’s syndrome. Hum Pathol 2003; 34: 282–284.Google Scholar
217. Croonen, EA, van der Burgt, I, Kapusta, L, Draaisma, JM. Electrocardiography in Noonan syndrome PTPN11 gene mutation – phenotype characterization. Am J Med Genet A 2008; 146: 350–353.Google Scholar
218. Lin, AE, Alexander, ME, Colan, SD, et al. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A 2011; 155A: 486–507.Google Scholar
219. Shaw, AC, Kalidas, K, Crosby, AH, Jeffery, S, Patton, MA. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child 2007; 92: 128–132.Google Scholar
220. Witt, DR, McGillivray, BC, Allanson, JE, et al. Bleeding diathesis in Noonan syndrome: a common association. Am J Med Genet 1988; 31: 305–317.Google Scholar
221. Sharland, M, Patton, MA, Talbot, S, Chitolie, A, Bevan, DH. Coagulation-factor deficiencies and abnormal bleeding in Noonan’s syndrome. Lancet 1992; 339: 19–21.Google Scholar
222. Kitchens, CS, Alexander, JA. Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome. J Pediatr 1983; 102: 224–227.Google Scholar
223. Wiegand, G, Hofbeck, M, Zenker, M, Budde, U, Rauch, R. Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue? Thromb Res 2012; 130: e251–e254.Google Scholar
224. Nunes, P, Aguilar, S, Prado, SN, et al. Severe congenital thrombocytopaenia – first clinical manifestation of Noonan syndrome. BMJ Case Rep 2012; 2012: pii: bcr1020114940, doi:10.1136/bcr.10.2011.4940.Google Scholar
225. Artoni, A, Selicorni, A, Passamonti, SM, et al. Hemostatic abnormalities in Noonan Syndrome. Pediatrics 2014; 133: e1299–1304.Google Scholar
226. Tofil, NM, Winkler, MK, Watts, RG, Noonan, J. The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding. Pediatr Crit Care Med 2005; 6: 352–354.Google Scholar
227. Dineen, RA, Lenthall, RK. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome. Neuroradiology 2004; 46: 301–305.Google ScholarPubMed
228. Ho, WL, Wang, JK, Li, YW. Radiological features of late-onset lymphoedema in Noonan’s syndrome. Pediatr Radiol 2003; 33: 200–202.Google Scholar
229. Fabretto, A, Kutsche, K, Harmsen, MB, et al. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010; 53: 322–324.Google Scholar
230. Hernandez, RJ, Stern, AM, Rosenthal, A. Pulmonary lymphangiectasis in Noonan syndrome. AJR Am J Roentgenol 1980; 134: 75–80.Google Scholar
231. Goens, MB, Campbell, D, Wiggins, JW. Spontaneous chylothorax in Noonan syndrome. Treatment with prednisone. Am J Dis Child 1992; 146: 1453–1456.Google Scholar
232. Tsang, HY, Cheung, YF, Leung, MP, Chau, KT. Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome. Catheter Cardiovasc Interv 2000; 51: 441–443.Google Scholar
233. Dietz, HC, Loeys, B, Carta, L, Ramirez, F. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005; 139C: 4–9.Google Scholar
234. Loeys, BL, Dietz, HC, Braverman, AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476–485.Google Scholar
235. Gott, VL, Greene, PS, Alejo, DE, et al. Replacement of the aortic root in patients with Marfan’s syndrome. N Engl J Med 1999; 340: 1307–1313.Google Scholar
236. Cattaneo, SM, Bethea, BT, Alejo, DE, et al. Surgery for aortic root aneurysm in children: a 21-year experience in 50 patients. Ann Thorac Surg 2004; 77: 168–176.Google Scholar
237. Everitt, MD, Pinto, N, Hawkins, JA, et al. Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome. J Thorac Cardiovasc Surg 2009; 137: 1327–1332; (discussion 1332–1333).Google Scholar
238. Roubertie, F, Ben Ali, W, Raisky, O, et al. Aortic root replacement in children: a word of caution about valve-sparing procedures. Eur J Cardiothorac Surg 2009; 35: 136–140.Google Scholar
239. Wood, JR, Bellamy, D, Child, AH, Citron, KM. Pulmonary disease in patients with Marfan syndrome. Thorax 1984; 39: 780–784.Google Scholar
240. Booms, P, Cisler, J, Mathews, KR, et al. Novel exon skipping mutation in the fibrillin-1 gene: two “hot spots” for the neonatal Marfan syndrome. Clin Genet 1999; 55: 110–117.Google Scholar
241. Sutherell, J, Zarate, Y, Tinkle, BT, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis 2007; 2: 342–346.Google Scholar
242. Strigl, S, Quagebeur, JM, Gersony, WM. Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol 2007; 28: 403–405.Google Scholar
243. Krasemann, T, Kotthoff, S, Kehl, HG, et al. Cardiac transplantation in neonatal Marfan syndrome – a life-saving approach. Thorac Cardiovasc Surg 2005; 53 (Suppl 2): S146–S148.Google Scholar
244. Drera, B, Ritelli, M, Zoppi, N, et al. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis 2009; 4: 24.Google Scholar
245. Muramatsu, Y, Kosho, T, Magota, M, et al. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. Am J Med Genet A 2010; 152A: 417–421.Google Scholar
246. Williams, JA, Loeys, BL, Nwakanma, LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007; 83: S757–S763; (discussion S785–S790).Google Scholar
247. Maccarrick, G, Black, JH 3rd, Bowdin, S, et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med 2014; 16: 576–587.Google Scholar
248. Malhotra, A, Westesson, PL. Loeys-Dietz syndrome. Pediatr Radiol 2009; 39: 1015.Google Scholar
249. Cleuziou, J, Eichinger, WB, Schreiber, C, Lange, R. Aortic root replacement with re-implantation technique in an infant with Loeys-Dietz syndrome and a bicuspid aortic valve. Pediatr Cardiol 2010; 31: 117–119.Google Scholar
250. Patel, ND, Arnaoutakis, GJ, George, TJ, et al. Valve-sparing aortic root replacement in Loeys-Dietz syndrome. Ann Thorac Surg 2011; 92: 556–560; (discussion 560–561).Google Scholar
251. Kawazu, Y, Inamura, N, Kayatani, F, Okamoto, N, Morisaki, H. Prenatal complex congenital heart disease with Loeys-Dietz syndrome. Cardiol Young 2012; 22: 116–119.Google Scholar
252. Nishida, K, Tamura, S, Yamazaki, S, et al. Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. Pediatr Int 2014; 56: e82–e85.Google Scholar
253. Kirmani, S, Tebben, PJ, Lteif, AN, et al. Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. Am J Med Genet A 2010; 152A: 1016–1019.Google Scholar
254. Tan, EW, Offoha, RU, Oswald, GL, et al. Increased fracture risk and low bone mineral density in patients with Loeys-Dietz syndrome. Am J Med Genet A 2013; 161A: 1910–1914.Google Scholar
255. Fuhrhop, SK, McElroy, MJ, Dietz, HC 3rd, MacCarrick, GL, Sponseller, PD. High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. J Bone Joint Surg Am 2015; 97: 411–419.Google Scholar
256. Turnpenny, PD, Ellard, S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012; 20: 251–257.Google Scholar
257. McElhinney, DB, Krantz, ID, Bason, L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002; 106: 2567–2574.Google Scholar
258. Kamath, BM, Podkameni, G, Hutchinson, AL, et al. Renal anomalies in Alagille syndrome: a disease-defining feature. Am J Med Genet A 2012; 158A: 85–89.Google Scholar
259. Blue, GM, Mah, JM, Cole, AD, et al. The negative impact of Alagille syndrome on survival of infants with pulmonary atresia. J Thorac Cardiovasc Surg 2007; 133: 1094–1096.Google Scholar
260. Mainwaring, RD, Sheikh, AY, Punn, R, Reddy, VM, Hanley, FL. Surgical outcomes for patients with pulmonary atresia/major aortopulmonary collaterals and Alagille syndrome. Eur J Cardiothorac Surg 2012; 42: 235–240; (discussion 240–241).Google Scholar
261. Bacha, EA, Hardin, J, Cronin, DC, et al. Open-heart surgery in pediatric patients with end-stage liver disease. Ann Thorac Surg 2004; 78: e30–e33.Google Scholar
262. Odim, JN, Wu, J, Laks, H, Banerji, A, Drant, S. Cardiac surgery in children with end-stage liver disease awaiting liver transplantation. Ann Thorac Surg 2006; 81: 697–700.Google Scholar
263. Kamath, BM, Spinner, NB, Emerick, KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004; 109: 1354–1358.Google Scholar
264. Lykavieris, P, Crosnier, C, Trichet, C, Meunier-Rotival, M, Hadchouel, M. Bleeding tendency in children with Alagille syndrome. Pediatrics 2003; 111: 167–170.Google Scholar
265. May, L, Hanley, FL, Connolly, AJ, Reddy, S. Atherosclerosis causing recurrent catastrophic aortopulmonary shunt dehiscence in a patient with Alagille syndrome. Pediatr Cardiol 2013; 34: 1945–1948.Google Scholar
266. Rasmussen, SA, Wong, LY, Yang, Q, May, KM, Friedman, JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111 (Pt 1): 777–784.Google Scholar
267. McMahon, CJ, Chang, AC, Pignatelli, RH, et al. Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol 2005; 26: 477–479.Google Scholar
268. Yukifumi, M, Hirohiko, S, Fukiko, I, Mariko, M. Trisomy 13 in a 9-year-old girl with left ventricular noncompaction. Pediatr Cardiol 2011; 32: 206–207.Google Scholar
269. Maeda, J, Yamagishi, H, Furutani, Y, et al. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A 2011; 155A: 2641–2646.Google Scholar
270. Graham, EM, Bradley, SM, Shirali, GS, Hills, CB, Atz, AM. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Am J Cardiol 2004; 93: 801–803.Google Scholar
271. Issekutz, KA, Graham, JM Jr, Prasad, C, Smith, IM, Blake, KD. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A 2005; 133A: 309–317.Google Scholar
272. Zentner, GE, Layman, WS, Martin, DM, Scacheri, PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A 2010; 152A: 674–686.Google Scholar
273. Lalani, SR, Safiullah, AM, Molinari, LM, et al. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet 2004; 41: e94.Google Scholar
274. Corsten-Janssen, N, Saitta, SC, Hoefsloot, LH, et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol Syndromol 2013; 4: 235–245.Google Scholar
275. Blake, KD, Prasad, C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1: 34.Google Scholar
276. Corsten-Janssen, N, Kerstjens-Frederikse, WS, du Marchie Sarvaas, GJ, et al. The cardiac phenotype in patients with a CHD7 mutation. Circ Cardiovasc Genet 2013; 6: 248–254.Google Scholar
277. Lin, AE, Siebert, JR, Graham, JM Jr. Central nervous system malformations in the CHARGE Association. Am J Med Genet 1990; 37: 304–310.Google Scholar
278. Jyonouchi, S, McDonald-McGinn, DM, Bale, S, Zackai, EH, Sullivan, KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 2009; 123: e871–e877.Google Scholar
279. Stack, CG, Wyse, RK. Incidence and management of airway problems in the CHARGE Association. Anaesthesia 1991; 46: 582–585.Google Scholar
280. Morgan, D, Bailey, M, Phelps, P, et al. Ear-nose-throat abnormalities in the CHARGE Association. Arch Otolaryngol Head Neck Surg 1993; 119: 49–54.Google Scholar
281. Bergman, JE, Blake, KD, Bakker, MK, et al. Death in CHARGE syndrome after the neonatal period. Clin Genet 2010; 77: 232–240.Google Scholar
282. Blake, K, MacCuspie, J, Hartshorne, TS, et al. Postoperative airway events of individuals with CHARGE syndrome. Int J Pediatr Otorhinolaryngol 2009; 73: 219–226.Google Scholar
283. Blake, KD, Russell-Eggitt, IM, Morgan, DW, Ratcliffe, JM, Wyse, RK. Who’s in CHARGE? Multidisciplinary management of patients with CHARGE Association. Arch Dis Child 1990; 65: 217–223.Google Scholar
284. Wyse, RK, Al-Mahdawi, S, Burn, J, Blake, K. Congenital heart disease in CHARGE Association. Pediatr Cardiol 1993; 14: 75–81.Google Scholar
285. James, PA, Aftimos, S, Hofman, P. CHARGE Association and secondary hypoadrenalism. Am J Med Genet A 2003; 117A: 177–180.Google Scholar
286. Gregory, LC, Gevers, EF, Baker, J, et al. Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab 2013; 98: E737–E743.Google Scholar
287. Baujat, G, Le Merrer, M. Ellis-van Creveld syndrome. Orphanet J Rare Dis 2007; 2: 27.Google Scholar
288. O’Connor, MJ, Rider, NL, Thomas Collins, R, et al. Contemporary management of congenital malformations of the heart in infants with Ellis-van Creveld syndrome: a report of nine cases. Cardiol Young 2011; 21: 145–152.Google Scholar
289. Hills, CB, Kochilas, L, Schimmenti, LA, Moller, JH. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol 2011; 32: 977–982.Google Scholar
290. O’Connor, MJ, Tang, X, Collins, RT. Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. Cardiol Young 2015; 25: 95–101.Google Scholar
291. Solomon, BD. VACTERL/VATER association. Orphanet J Rare Dis 2011; 6: 56.Google Scholar
292. Ahn, SY, Mendoza, S, Kaplan, G, Reznik, V. Chronic kidney disease in the VACTERL association: clinical course and outcome. Pediatr Nephrol 2009; 24: 1047–1053.Google Scholar
293. Cunningham, BK, Hadley, DW, Hannoush, H, et al. Analysis of cardiac anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol 2013; 97: 792–797.Google Scholar
294. Rao, RP, Drolet, BA, Holland, KE, Frommelt, PC. PHACES association: a vasculocutaneous syndrome. Pediatr Cardiol 2008; 29: 793–799.Google Scholar
295. Hess, CP, Fullerton, HJ, Metry, DW, et al. Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. AJNR Am J Neuroradiol 2010; 31: 1980–1986.Google Scholar
296. Heyer, GL, Dowling, MM, Licht, DJ, et al. The cerebral vasculopathy of PHACES syndrome. Stroke 2008; 39: 308–316.Google Scholar
297. Bronzetti, G, Giardini, A, Patrizi, A, et al. Ipsilateral hemangioma and aortic arch anomalies in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and cardiac defects and eye abnormalities (PHACE) anomaly: report and review. Pediatrics 2004; 113: 412–415.Google Scholar
298. Bayer, ML, Frommelt, PC, Blei, F, et al. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol 2013; 112: 1948–1952.Google Scholar
299. Giardini, A, Gholam, C, Khambadkone, S, Kostolny, M. Need for comprehensive vascular assessment before surgical repair of aortic coarctation in PHACES syndrome. Pediatr Cardiol 2010; 31: 291–293.Google Scholar
300. Hartemink, DA, Chiu, YE, Drolet, BA, Kerschner, JE. PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol 2009; 73: 181–187.Google Scholar
301. Metry, DW, Haggstrom, AN, Drolet, BA, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 2006; 140: 975–986.Google Scholar
302. Burrows, PE, Robertson, RL, Mulliken, JB, et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 1998; 207: 601–607.Google Scholar
303. Cerruti Mainardi, P. Cri du chat syndrome. Orphanet J Rare Dis 2006; 1: 33.Google Scholar
304. Yamashita, M, Tanioka, F, Taniguchi, K, Matsuki, A, Oyama, T. Anesthetic considerations in Cri du chat syndrome: a report of three cases. Anesthesiology 1985; 63: 201–202.Google Scholar
305. Hills, C, Moller, JH, Finkelstein, M, Lohr, J, Schimmenti, L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics 2006; 117: e924–e927.Google Scholar
306. Grossfeld, PD, Mattina, T, Lai, Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 2004; 129A: 51–61.Google Scholar
307. Mattina, T, Perrotta, CS, Grossfeld, P. Jacobsen syndrome. Orphanet J Rare Dis 2009; 4: 9.Google Scholar
308. Favier, R, Jondeau, K, Boutard, P, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost 2003; 90: 893–897.Google Scholar
309. Blaine Easley, R, Sanders, D, McElrath-Schwartz, J, Martin, J, Mark Redmond, J. Anesthetic implications of Jacobsen syndrome. Paediatr Anaesth 2006; 16: 66–71.Google Scholar
310. Pivnick, EK, Velagaleti, GV, Wilroy, RS, et al. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 1996; 33: 772–778.Google Scholar
311. Ng, SB, Bigham, AW, Buckingham, KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42: 790–793.Google Scholar
312. Niikawa, N, Kuroki, Y, Kajii, T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988; 31: 565–589.Google Scholar
313. Schrander-Stumpel, CT, Spruyt, L, Curfs, LM, Defloor, T, Schrander, JJ. Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A 2005; 132A: 234–243.Google Scholar
314. Digilio, MC, Marino, B, Toscano, A, Giannotti, A, Dallapiccola, B. Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001; 100: 269–274.Google Scholar
315. Bogershausen, N, Wollnik, B. Unmasking Kabuki syndrome. Clin Genet 2013; 83: 201–211.Google Scholar
316. Armstrong, L, Abd El Moneim, A, Aleck, K, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005; 132A: 265–272.Google Scholar
317. Hoffman, JD, Ciprero, KL, Sullivan, KE, et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A 2005; 135: 278–281.Google Scholar
318. Greenberg, F, Guzzetta, V, Montes de Oca-Luna, R, et al. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 1991; 49: 1207–1218.Google Scholar
319. Elsea, SH, Girirajan, S. Smith-Magenis syndrome. Eur J Hum Genet 2008; 16: 412–421.Google Scholar
320. Edelman, EA, Girirajan, S, Finucane, B, et al. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet 2007; 71: 540–550.Google Scholar
321. Greenberg, F, Lewis, RA, Potocki, L, et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 1996; 62: 247–254.Google Scholar
322. Myers, SM, Challman, TD. Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. Am J Med Genet A 2004; 131: 99–100.Google Scholar
323. Smith, AC, Gropman, AL, Bailey-Wilson, JE, et al. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med 2002; 4: 118–125.Google Scholar
324. Chaudhry, AP, Schwartz, C, Singh, AK. Stroke after cardiac surgery in a patient with Smith-Magenis syndrome. Tex Heart Inst J 2007; 34: 247–249.Google Scholar
325. Goldman, AM, Potocki, L, Walz, K, et al. Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol 2006; 21: 93–98.Google Scholar
326. Myers, SM, Challman, TD, Bock, GH. End-stage renal failure in Smith-Magenis syndrome. Am J Med Genet A 2007; 143A: 1922–1924.Google Scholar
327. Maas, NM, Van Buggenhout, G, Hannes, F, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 2008; 45: 71–80.Google Scholar
328. Battaglia, A, Filippi, T, Carey, JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 2008; 148C: 246–251.Google Scholar
329. Battaglia, A, Filippi, T, South, ST, Carey, JC. Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol 2009; 51: 373–380.Google Scholar
330. von Elten, K, Sawyer, T, Lentz-Kapua, S, Kanis, A, Studer, M. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome. Pediatr Cardiol 2013; 34: 1244–1246.Google Scholar
331. Tautz, J, Veenma, D, Eussen, B, et al. Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. Am J Med Genet A 2010; 152A: 2891–2894.Google Scholar
332. Hanley-Lopez, J, Estabrooks, LL, Stiehm, R. Antibody deficiency in Wolf-Hirschhorn syndrome. J Pediatr 1998; 133: 141–143.Google Scholar
333. Liu, J, Krantz, ID. Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 2009; 76: 303–314.Google Scholar
334. Jackson, L, Kline, AD, Barr, MA, Koch, S. De Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47: 940–946.Google Scholar
335. Kline, AD, Stanley, C, Belevich, J, et al. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47: 1053–1058.Google Scholar
336. Selicorni, A, Colli, AM, Passarini, A, et al. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A 2009; 149A: 1268–1272.Google Scholar
337. Chatfield, KC, Schrier, SA, Li, J, et al. Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A 2012; 158A: 2499–2505.Google Scholar
338. August, DA, Sorhabi, S. Is a difficult airway predictable in Cornelia de Lange syndrome? Paediatr Anaesth 2009; 19: 707–709.Google Scholar
339. Jyonouchi, S, Orange, J, Sullivan, KE, Krantz, I, Deardorff, M. Immunologic features of Cornelia de Lange syndrome. Pediatrics 2013; 132: e484–e489.Google Scholar
340. Lambert, MP, Jackson, LG, Clark, D, et al. The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. Am J Med Genet A 2011; 155A: 33–37.Google Scholar
341. Selicorni, A, Sforzini, C, Milani, D, et al. Anomalies of the kidney and urinary tract are common in de Lange syndrome. Am J Med Genet A 2005; 132: 395–397.Google Scholar
342. Verrotti, A, Agostinelli, S, Prezioso, G, et al. Epilepsy in patients with Cornelia de Lange syndrome: a clinical series. Seizure 2013; 22: 356–359.Google Scholar
343. Bossert, T, Walther, T, Gummert, J, et al. Cardiac malformations associated with the Holt-Oram syndrome – report on a family and review of the literature. Thorac Cardiovasc Surg 2002; 50: 312–314.Google Scholar
344. Newbury-Ecob, RA, Leanage, R, Raeburn, JA, Young, ID. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996; 33: 300–307.Google Scholar
345. Digilio, MC, Calzolari, F, Capolino, R, et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A 2008; 146A: 1815–1819.Google Scholar
346. Digilio, MC, McDonald-McGinn, DM, Heike, C, et al. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A 2009; 149A: 2860–2864.Google Scholar
347. Rollnick, BR, Kaye, CI, Nagatoshi, K, Hauck, W, Martin, AO. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26: 361–375.Google Scholar
348. Ozlu, O, Simsek, S, Alacakir, H, Yigitkanli, K. Goldenhar syndrome and intubation with the fiberoptic broncoscope. Paediatr Anaesth 2008; 18: 793–794.Google Scholar
349. Ritchey, ML, Norbeck, J, Huang, C, Keating, MA, Bloom, DA. Urologic manifestations of Goldenhar syndrome. Urology 1994; 43: 88–91.Google Scholar
350. Lin, AE, Salbert, BA, Belmont, J, Smoot, L. Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinics. Am J Med Genet A 2004; 131: 111–114.Google Scholar
351. Jacobs, ML, Jacobs, JP, Franklin, RC, et al. Databases for assessing the outcomes of the treatment of patients with congenital and paediatric cardiac disease – the perspective of cardiac surgery. Cardiol Young 2008; 18 (Suppl 2): 101–115.Google Scholar
352. Gelb, B, Brueckner, M, Chung, W, et al. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res 2013; 112: 698–706.Google Scholar
353. Lin, AE, Basson, CT, Goldmuntz, E, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med 2008; 10: 469–494.Google Scholar
Supplementary material: File

Landis supplementary material

Table S1

Download Landis supplementary material(File)
File 37.5 KB
Supplementary material: File

Landis supplementary material

Table S2

Download Landis supplementary material(File)
File 53 KB
Supplementary material: File

Landis supplementary material

Table S3

Download Landis supplementary material(File)
File 19.7 KB
Supplementary material: File

Landis supplementary material

Table S4

Download Landis supplementary material(File)
File 36.9 KB
Supplementary material: File

Landis supplementary material

Table S5

Download Landis supplementary material(File)
File 36.7 KB
Supplementary material: File

Landis supplementary material

Table S6

Download Landis supplementary material(File)
File 15.5 KB