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Considerations for Prenatal Counselling of Patients with Cardiac Rhabdomyomas based on their Cardiac and Neurologic Outcomes

Published online by Cambridge University Press:  22 January 2010

Sabrina C. Degueldre ,
Priya Chockalingam ,
Yvan Mivelaz ,
Stefano Di Bernardo ,
Jean-Pierre Pfammatter ,
Catherine Barrea ,
Nicole Sekarski ,
Pierre-Yves Jeannet ,
Jean-Claude Fouron  and
Yvan Vial
...Show all authors
Sabrina C. Degueldre
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Priya Chockalingam
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Yvan Mivelaz
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Stefano Di Bernardo
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Jean-Pierre Pfammatter
Affiliation:
Division of Pediatric Cardiology, University Hospital of Bern, Switzerland
Catherine Barrea
Affiliation:
Divison of Pediatric Cardiology, University Hospital of Saint-Luc, Bruxelles, Belgium
Nicole Sekarski
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Pierre-Yves Jeannet
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Jean-Claude Fouron
Affiliation:
Division of Pediatric Cardiology, Centre Hospitalier Universitaire de Sainte-Justine, Montreal, Canada
Yvan Vial
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
Erik J. Meijboom*
Affiliation:
Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland
*
Correspondence to: Erik J. Meijboom, MD, PhD, FACC, Division Pediatric Cardiology, Centre Hospitalier Universitaire Vaudois (CHUV), BH 11, 626, Rue du Bugnon 46, 1011, Lausanne, Switzerland. Tel: +41 21 314 3553; Fax: +41 21 314 3665; E-mail: [email protected]
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Abstract

Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.

Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.

The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.

Keywords

Cardiac tumourfetusoutcometuberous sclerosis
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 1 , February 2010 , pp. 18 - 24
Copyright
Copyright © Cambridge University Press 2010

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References

1.McAllister, HA Jr. Primary tumours of the heart and pericardium. Pathol Ann 1979; 14: 325–355.Google ScholarPubMed
2.Pipitone, S, Mongiovi, M, Grillo, R, Gagliano, S, Sperendeo, V. Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports. Ital Heart J 2002; 3: 48–52.Google ScholarPubMed
3.Birnbaum, SE, McGahan, JP, Janos, GG, Meyers, M. Fetal tachycardia and intramyocardial tumours. J Am Coll Cardiol 1985; 6: 1358–1361.CrossRefGoogle Scholar
4.Guereta, CD, Burgueros, M, Elorza, MD, Alix, AG, Benito, F, Gamallo, C. Cardiac rhabdomyoma presenting as fetal hydrops. Pediatr Cardiol 1986; 7: 171–174.Google Scholar
5.Shenker, LI, Reed, KL, Anderson, CF, Kern, W. Fetal pericardial effusion. Am J Obstet Gynecol 1989; 64: 1505–1508.CrossRefGoogle Scholar
6.Brand, JM, Frieberg, DZ. Spontaneous regression of a primary cardiac tumour presenting as fetal tachyarrhythmias. J Perinatol 1992; 12: 48–50.Google ScholarPubMed
7.Black, MD, Kadletz, M, Smallhorn, JF, Freedom, RM. Cardiac rhabdomyomas and obstructive left heart disease: histologically but not functionally benign. Ann Thoracic Surg 1998; 65: 1388–1390.CrossRefGoogle Scholar
8.Tworetzky, W, Mc Elhinney, DB, Margossian, R, et al. Association between cardiac tumours and tuberous sclerosis in the fetus and neonate. Am J Cardiol 2003; 92: 487–489.CrossRefGoogle ScholarPubMed
9.Fesslova, V, Villa, L, Rizzuti, T, Mastrangelo, M, Mosca, F. Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally. Prenat Diagn 2004; 24: 241–248.Google Scholar
10.Harding, CO, Pagon, RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 1990; 37: 443–447.CrossRefGoogle ScholarPubMed
11.Groves, MM, Fagg, NLK, Cook, AC, Allan, LD. Cardiac tumours in intrauterine life. Arch Dis Child 1992; 67: 1189–1192.CrossRefGoogle ScholarPubMed
12.Beghetti, M, Gow, RM, Haney, I, Mawson, J, Williams, WG, Freedom, RM. Pediatric primary benign cardiac tumours: a 15-year review. Am Heart J 1997; 134: 1107–1114.Google Scholar
13.Roach, ES, Sparagana, SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004; 19: 643–649.CrossRefGoogle ScholarPubMed
14.Holley, DG, Martin, GR, Brenner, JI, et al. Diagnosis and management of Fetal Cardiac Tumours: A Multicenter Experience and Review of Published Reports. J Am Coll Cardiol 1995; 26: 516–520.Google Scholar
15.Smythe, JF, Dyck, JDS, Smallhorn, JE, Freedom, RM. Natural history of cardiac rhabdomyoma in infancy and childhood. Am J Cardiol 1990; 66: 1247–1249.Google Scholar
16.Paladini, D, Palmieri, S, Russo, MG, Pacileo, G. Cardiac multiple rhabdomyomatosis: prenatal diagnosis and natural history. Ultrasound Obstet Gynecol 1996; 7: 84–85.CrossRefGoogle ScholarPubMed
17.Nir, A, Ekstein, S, Nadjari, M, Rass-Rotschild, A, Rein, AJJT. Rhabdomyoma in the fetus: Illustration of tumour growth during the second half of gestation. Pediatr Cardiol 2001; 22: 515–518.CrossRefGoogle ScholarPubMed
18.Giacoia, GP. Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis. Am J Perinatol 1992; 9: 111–114.CrossRefGoogle ScholarPubMed
19.Das, BB, Sharma, J. Cardiac rhabdomyoma and tuberous sclerosis: prenatal diagnosis and follow-up. Indian J Pediatr 2003; 70: 87–89.Google Scholar
20.Geipel, A, Krapp, M, Germer, U, Becker, R, Gembruch, U. Perinatal diagnosis of cardiac tumours. Ultrasound Obstet Gynecol 2001; 17: 17–21.CrossRefGoogle Scholar
21.Takeuchi, M, Nakayama, M, Kuwae, Y, Hamana, K, Inamura, N, Suehara, N. Huge pericardial rhabdomyoma with hypoplastic left ventricle and lung. Am J Perinatol 2006; 23: 89–92.CrossRefGoogle ScholarPubMed
22.Bader, RS, Chitayat, D, Kelly, E, et al. Fetal rhabdomyoma: prenatal diagnosis, clinical outcome and incidence of associated tuberous sclerosis complex. J Pediatr 2003; 143: 620–624.CrossRefGoogle ScholarPubMed
23.Wu, CT, Chen, MR, Hou, SH. Neonatal tuberous sclerosis with cardiac rhabdomyomas presenting as fetal supraventricular tachycardia. Jpn Heart J 1997; 38: 133–137.Google Scholar
24.Yen, HR, Chu, SM. Paroxysmal supraventricular tachycardia in neonatal tuberous sclerosis complex and cardiac rhabdomyoma: report of one case. Acta Paediatr Taiwan 2003; 44: 112–115.Google ScholarPubMed
25.Jimenez Casso, S, Benito Bartolome, F, Sanchez Fernandez-Bernal, C. Cardiac rhabdomyomas in tuberous sclerosis: clinical symptoms and course in 18 cases diagnosed in childhood. An Esp Pediatr 2000; 52: 36–40.Google Scholar
26.Zhou, QC, Fan, P, Peng, QH, Zhang, M, Fu, Z, Wang, CH. Prenatal echocardiographic differential diagnosis of fetal cardiac tumours. Ultrasound Obstet Gynecol 2004; 23: 165–171.Google Scholar
27.Choi, JM, Jaffe, R, Maidman, J, Baxi, LV. Multiple cardiac rhabdomyomas detected in utero. Fetal Diagn Ther 2000; 15: 174–176.Google Scholar
28.Mas, C, Penny, DJ, Menahem, S. Pre-excitation syndrome secondary to cardiac rhabdomyomas in tuberous sclerosis. J Paediatr Child Health 2000; 36: 84–86.CrossRefGoogle ScholarPubMed
29.Van Hare, GF, Phoon, CK, Munkenbeck, F, Patel, CR, Fink, DL, Silverman, NH. Electrophysiologic study and radiofrequency ablation in patients with intracardiac tumours and accessory pathways: is the tumour the pathway? J Cardiovasc Electrophysiol 1996; 7: 1204–1210.CrossRefGoogle ScholarPubMed
30.Ikemba, CM, Eidem, BW, Dimas, VV, O’Day, MP, Fraser, CD Jr. Fetal rhabdomyoma causing postnatal critical left ventricular outflow tract obstruction. Ann Thoracic Surg 2005; 80: 1529.CrossRefGoogle ScholarPubMed
31.Cabrera Duro, A, Rodrigo Carbonero, D, Aramendi Gallardo, J, et al. Tuberous sclerosis associated with rhabdomyoma in the left ventricular outflow tract. An Pediatr (Barc) 2005; 62: 367–369.Google Scholar
32.Elderkin, RA, Radford, DJ. Primary cardiac tumours in a pediatric population. J Paediatr Child Health 2002; 38: 173–177.Google Scholar
33.Sallee, D, Spector, ML, van Heeckeren, DW, Patel, CR. Primary pediatric cardiac tumours: a 17 year experience. Cardiol Young 1999; 9: 155–162.CrossRefGoogle Scholar
34.Takach, TJ, Reul, GJ, Ott, DA, Cooley, DA. Primary cardiac tumours in infants and children: immediate and long-term operative results. Ann Thorac Surg 1996; 62: 559–564.Google Scholar
35.Piazza, N, Chughtai, T, Toledano, K, Sampalis, J, Liao, C, Morin, JF. Primary cardiac tumours: eighteen years of surgical experience on 21 patients. Can J Cardiol 2004; 20: 1443–1448.Google ScholarPubMed
36.Aicardi, J. Diseases of the Nervous System in Childhood, 2nd edn. Cambridge University Press, London, 1998: 131.Google Scholar
37.Chen, CP, Su, YN, Hung, CC. Molecular genetic analysis of the TSC genes in two families with prenatally diagnosed rhabdomyomas. Prenat Diagn 2005; 25: 176–179.Google Scholar
38.Joswiak, S, Domanska- Pakiela, D, Kwiatkowski, DJ, Kotulska, K. Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation. J Child Neurol 2005; 20: 988–989.Google Scholar
39.Milunsky, A, Shim, SH, Ito, M. Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Prenat Diagn 2005; 25: 582–585.CrossRefGoogle ScholarPubMed