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The Role of Genetic Testing In Paediatric Syndromes of Sudden Death: State Of The Art and Future Considerations

Published online by Cambridge University Press:  01 November 2009

Jorge McCormack*
Affiliation:
The Congenital Heart Institute of Florida (CHIF), Division of Pediatric Cardiology, All Children’s Hospital and Children’s Hospital of Tampa, Pediatric Cardiology Associates/Pediatrix Medical Group, Saint Petersburg and Tampa, Florida, United States of America
*
Correspondence to: Jorge McCormack, MD, FACC, The Congenital Heart Institute of Florida (CHIF), Division of Pediatric Cardiology, All Children’s Hospital and Children’s Hospital of Tampa, Pediatric Cardiology Associates/Pediatrix Medical Group, Saint Petersburg and Tampa, Florida, United States of America. E-mail: [email protected]; Web Page: http://www.CHIF.us/

Abstract

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Type
Original Article
Copyright
Copyright © Cambridge University Press 2009

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References

1.Maron, BJ, Shirani, J, Poliac, LC, Mathenge, R, Roberts, WC, Mueller, FO. Sudden death in young competitive athletes. Clinical, demographic, and pathologic profiles. JAMA 1996; 276: 199204.Google Scholar
2.Tabib, A, Mirast, A, Taniere, P, Loire, RA. Undetected cardiac lesions cause unexpected sudden cardiac death during occasional sport activity: A report of 80 cases. European Heart Journal 1999; 20: 900903.Google Scholar
3.Corrado, D, Basso, C, Schiavon, M, Thiene, G. Screening for hypertrophic cardiomyopathy in young athletes. N Engl J Med 1998; 3396: 364369.CrossRefGoogle Scholar
4.Suarez-Mier, MP, Aguilera, B. Trends in mortality due to cardiovascular diseases in Andalusia, Spain. Rev. Esp Cardiol 2002; 554: 347438.Google Scholar
5.Kahali, B, Roy, DG, Batabyal, S, Bose, TK. Study of sudden cardiac deaths in young athletes. J Indian Med Assoc 2002; 100 (12): 708709.Google Scholar
6.Maron, BJ. Sudden death in young athletes. N Engl J Med 2003; 349 (11): 10641075.Google Scholar
7.Berger, S, Dhala, A, Friedberg, DZ. Sudden cardiac deaths in infants, children and adolescents. Pediatric Clin North Am 1999; 46 (2): 221234.CrossRefGoogle ScholarPubMed
8.Neuspiel, DR, Kuller, LH. Sudden and unexpected natural death in childhood and adolescence. JAMA 1985; 254 (10): 13211325.Google Scholar
9.Keren, A, Syrris, P, McKenna, WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med 2008; 5 (3): 158168.CrossRefGoogle ScholarPubMed
10.Baron, MJ, Gardin, JM, Flack, JM, Gidding, SS, Kurosaki, TT, Bild, DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA Study. Circulation 1995; 92 (4): 785789.Google Scholar
11.Van Driest, SL, Ommen, SR, Tajik, AJ, Gersh, BJ, Ackerman, MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005; 80 (4): 463469.Google Scholar
12.Geisterfer-Lowrance, AA, Kass, S, Tanigawa, G. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990; 62 (5): 9991006.CrossRefGoogle ScholarPubMed
13.Watkins, H, Rosenzweig, A, Hwang, DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992; 326 (17): 11081114.CrossRefGoogle ScholarPubMed
14.Van Driest, SL, Vasile, VC, Ommen, SR, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44 (9): 19031910.CrossRefGoogle ScholarPubMed
15.Van Driest, SL, Ommen, SR, Tajik, AJ, Gersh, BJ, Ackerman, MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005; 80 (4): 463469.CrossRefGoogle ScholarPubMed
16.Spirito, P, Seidman, CE, McKenna, WJ, Maron, BJ. The management of hypertrophic cardiomyopathy. N Engl J Med 1997; 336 (11): 775785.Google Scholar
17.Solomon, SD, Wolff, S, Watkins, H. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol 1993; 22 (2): 498505.CrossRefGoogle ScholarPubMed
18.Binder, J, Ommen, SR, Gersh, BJ, et al. Echocardiography-guided testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc 2006; 81 (4): 459467.Google Scholar
19.ACC/AHA/ECC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death-executive summary. A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). Developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. European Heart Journal 2007; 27 (17): 20992140.Google Scholar
20.Nava, A, Thiene, G, Canciani, B, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol 1988; 12 (5): 12221228.Google Scholar
21.Richardson, P, McKenna, W, Bristow, M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93 (5): 841842.Google Scholar
22.Sen-Chowdhry, S, Syrris, P, McKenna, WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. JACC 2007; 50 (19): 18131821.CrossRefGoogle ScholarPubMed
23.Corrado, D, Thiene, G. Arrythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 2006; 113 (13): 16341637.CrossRefGoogle Scholar
24.Priori, SG, Bloise, R, Crotti, L. The long QT syndrome. Europace 2001; 3 (1): 1627.CrossRefGoogle ScholarPubMed
25.Jervell, A, Lange-Nielsen, F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957; 54 (1): 5968.Google Scholar
26.Romano, C, Gemme, G, Pongiglione, R. Aritmie cardiache rare in eta pediatrica. ClinPed 1963; 45: 656683.Google Scholar
27.Ward, OC. A new familial cardiac syndrome in children. J Ir Med Assoc 1964; 54: 103106.Google ScholarPubMed
28.Bazett, HC. An analysis of the time-relations of electrocardiograms. Heart 1920; 7: 353370.Google Scholar
29.Taggart, NW, Haglund, CM, Tester, DJ, Ackerman, MJ. Diagnostic miscues in congenital long QT syndrome. Circulation 2007; 115 (20): 26132620.Google Scholar
30.Schwartz, PJ, Moss, AJ, Vincent, GM, Crampton, RS. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993; 88 (2): 782784.CrossRefGoogle Scholar
31.Moss, AJ, Scwartz, PJ. 25th anniversary of the International long QT syndrome Registry: an ongoing quest to uncover the secrets of long QT syndrome. Circulation 2005; 111 (9): 11991201.Google Scholar
32.Keating, M, Atkinson, D, Dunn, C, Timothy, K, Vincent, GM, Leppert, M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey Ras-1 gene. Science 1991; 252 (5006): 704706.CrossRefGoogle Scholar
33.Dumaine, R, Wang, Q, Keating, MT, Hartmann, HA, Schwartz, PJ, Brown, AM, Kirsch, GE. Multiple mechanisms of Na+ channel-linked long QT syndrome. Circulation Research 1996; 78 (5): 916924.CrossRefGoogle ScholarPubMed
34.Bennett, PB, Yazawa, K, Makita, N, George, AL Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995; 376 (6542): 683685.Google Scholar
35.Priori, SG, Napolitano, C, Schwartz, PJ. Low penetrance in the long QT syndrome. clinical impact. Circulation 1999; 99 (4): 529533.CrossRefGoogle Scholar
36.Moss, AJ, Zareba, W, Benhorin, J, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995; 92 (10): 29292934.Google Scholar
37.Etheridge, SP, Sanatani, S, Cohen, MI, Albaro, CA, Saarel, EV, Bradley, DJ. Long QT syndrome in children in the era of implantable defibrillators. J Am Coll Cardiol 2007; 50 (14): 13351340.CrossRefGoogle ScholarPubMed
38.Tester, DJ, McCormack, J, Ackerman, MJ. Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping. Am J Cardiol 2004; 93 (6): 788791.CrossRefGoogle ScholarPubMed
39.Phillips, KA, Ackerman, MJ, Sakowski, J, Berul, CI. Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases. Heart Rhythm 2005; 2 (12): 12941300.Google Scholar
40.Brugada, P, Brugada, J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992; 20 (6): 13911396.CrossRefGoogle ScholarPubMed
41.Corrado, D, Nava, A, Buja, G, et al. Familial cardiomyopathy underlies syndrome of right bundle branch block, ST segment elevation and sudden death. J Am Coll Cardiol 1996; 27 (2): 443448.Google Scholar
42.Chen, Q, Kirsch, GE, Zhang, D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392 (6673): 293296.CrossRefGoogle ScholarPubMed
43.Priori, SG, Napolitano, C, Gasparini, M, et al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation 2000; 102 (20): 25092515.Google Scholar
44.Priori, SG, Napolitano, C, Gasparini, M, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation 2002; 105 (11): 13421347.Google Scholar
45.Antzelevitch, C, Brugada, P, Borggrefe, M, et al. Brugada syndrome: report of the second consensus conference. Heart Rhythm 2005; 2 (4): 429440.Google ScholarPubMed
46.Beaufort-Krol, GC, Van Den Berg, MP, Wilde, AA, et al. Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. J Am Coll Cardiol 2005; 46 (2): 331337.Google Scholar
47.Probst, V, Denjoy, I, Meregalli, PG, et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 2007; 115 (15): 20422048.Google Scholar
48.Skinner, JR, Chung, SK, Nel, CA, et al. Brugada syndrome masquerading as febrile Seizures. Pediatrics 2007; 119 (5): e1206e1211.Google Scholar
49.Priori, SG, Napolitano, C, Tiso, N, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103 (2): 196200.CrossRefGoogle ScholarPubMed
50.Priori, SG, Napolitano, C. Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. J Clin Invest 2005; 115 (8): 20332038.Google Scholar
51.Napolitano, C, Priori, SG. Diagnosis and treatment of catecholaminergic polymorphic ventricualar tachycardia. Heart Rhythm 2007; 4 (5): 675678.Google Scholar
52.Sumitomo, N, Harada, K, Nagashima, M, et al. Catecholaminergic polymorphic ventricualar tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003; 89 (1): 6670.Google Scholar
53.American Academy of Pediatrics AAP Task Force on Infant Positioning and SIDS. Positioning and SIDS. Pediatrics 1992; 89 (6 Pt 1): 11201126.Google Scholar
54.Blair, PS, Sidebotham, P, Berry, PJ, Evans, M, Fleming, PJ. Major epidemiological changes in sudden infant death syndrome: a 20-year population-based study in the UK. Lancet 2006; 367 (9507): 314319.CrossRefGoogle ScholarPubMed
55.Maron, BJ, Clark, CE, Glodstein, RE, Epstein, SE. Potential role of QT interval prolongation in sudden infant death syndrome. Circulation 1976; 54 (3): 423430.Google Scholar
56.Schwartz, PJ, Stramba-Badiale, M, Segantini, A, et al. Prolongation of the QT interval and the sudden infant death syndrome. NEJM 1998; 338 (24): 17091714.Google Scholar
57.Skinner, JR, Chung, SK, Montgomery, D, et al. Near-miss SIDS due to Brugada syndrome. Arch Dis Child 2005; 90 (5): 528529.Google Scholar
58.Arnestad, M, Crotti, L, Rognum, TO, et al. Prevalence of long QT syndrome gene variants in sudden infant death syndrome. Circulation 2007; 115 (3): 361367.Google Scholar
59.Cronk, L, Ye, B, Tester, D, Vatta, M, Makielski, J, Ackerman, MJ . AB32-3 Identification of CAV3-encoded caveolin-3 mutations in sudden infant death syndrome. Heart Rhythm Vol 3, Issue 5, Pages S66–S67.Google Scholar
60.Tester, D, Carturan, E, Dura, M , et al. AB32-4 Molecular and functional characterization of novel RyR2-encoded cardiac ryanodine receptor/calcium release channel mutations in sudden infant death syndrome. Heart Rhythm Vol 3, Issue 5, Pages S67–S67.Google Scholar
61.Tester, DJ, Ackerman, MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 2007; 49 (2): 240246.Google Scholar