Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited. Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy. Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%). Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy. Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background
If the inline PDF is not rendering correctly, you can download the PDF file here.
1. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002;287:1308-1320.
2. Maron BJ. Sudden death in young athletes. N Engl J Med. 2003;349:1064-1075.
3. Losi MA Nistri S Galderisi M et al. Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment. Cardiovascular Ultrasound 2010;8:7.
4. Lipshultz SE Sleeper LA Towbin JA et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003;348(17):1647-55. [PubMed: 12711739]
5. Nugent AW Daubeney PE Chondros P et al. for the National Australian Childhood Cardiomyopathy Study. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003;348:1639-1646.
6. Ahmad F Seidman JG Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005;6:185-216.
7. Marian AJ Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001;33:655-670.
8. Niimura H Patton KK McKenna WJ et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-451.
9. Richard P Charron P Carrier L et al. Hypertrophic cardiomyopathy: distribution of disease genes spectrum of mutations and implications for a molecular diagnosis strategy. Circulation. 2003;107:2227-2232.
10. Seidman JG Seidman C. The genetic basis for cardiomyopathy: from mutation identifi cation to mechanistic paradigms. Cell. 2001;104:557-567.
11. Colan SD Lipshultz SE Lowe AM et al. Epidemiology and cause-specifi c outcome of hypertrophic cardiomyopathy in children: fi ndings from the Pediatric Cardiomyopathy Registry. Circulation. 2007;115:773-781.
12. Nugent AW Daubeney PE Chondros P et al. Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study. Circulation. 2005;112:1332-1338.
13. Schwartz ML Cox GF Lin AE et al. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996;94:2021-2038.
14. Maron BJ. Hypertrophic cardiomyopathy in childhood. Pediatr Clin North Am. 2004;51:1305-1346.
15. Marino B Digilio MC Toscano A et al. Congenital heart disease in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703-6.
16. Van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4.
17. Burch M Sharland M Shinebourne E et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993;22:1189-92.
18. Allanson JE. Noonan syndrome. In: Cassidy SB Allanson JE editors. Management of Genetic Syndromes. Delaware: Wiley-Liss Inc.; 2001. p. 253-68.
19. Skinner JR Manzoor A Hayes AM et al. A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants. Heart. 1997;77:229-33.
20. Ostman-Smith I Wettrell G Riesenfeld T. A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoreceptor antagonist treatment. J Am Coll Cardiol. 1999; 34:1813-22.
21. McKenna W Deanfi eld J Faruqui A et al. Prognosis in hypertrophic cardiomyopathy: role of age and clinical electrocardiographic and hemodynamic features. Am J Cardiol. 1981;47:532-8.
22. Maron BJ Henry NL Clark CE et al. Asymmetric septal hypertrophy in childhood. Circulation. 1976;53:9-19.
23. Seiler C Hess OM Schoenbeck M et al. Long-term follow-up of medical versus surgical therapy for hypertrophic cardiomyopathy: a retrospective study. J Am Coll Cardiol. 1991;17:634-42.
24. Koffl ard MJ Waldstein DJ Vos J ten Cate FJ. Prognosis in hypertrophic cardiomyopathy observed in a large clinic population. Am J Cardiol. 1993;72:939-43.
25. Kampmann C Wiethoff C Wenzel A et al. Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe. Heart. 2000;83(6):667-672.
26. Rakowski H Fulop J Wigle ED. The role of echocardiography in the assessment of hypertrophic cardiomyopathy. Postgrad Med J. 1986;62:557-61.
27. Wilkinson J Lowe A Salbert B et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012;164:442-8.
28. Yetman A Hamilton R Benson L McCrindle B. Long-term outcome and prognostic determinants in children with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1998;32:1943-50.
29. McCully RB Nishimura RA Tajik AJ Schaff HV Danielson GK. Extent of clinical improvement after surgical treatment of hypertrophic obstructive cardiomyopathy. Circulation. 1996;94:467-471.
30. Robbins RC Stinson EB. Long-term results of left ventricular myotomy and myectomy for obstructive hypertrophic cardiomyopathy. J Thorac Cardiovasc Surg. 1996;111:586-594.
31. Mohr R Schaff HV Puga FJ Danielson GK. Results of operation for hypertrophic obstructive cardiomyopathy in children and adults less than 40 years of age. Circulation. 1989;80(pt 1):I-191-I-196.
32. Theodoro DA Danielson GK Feldt RH Anderson BJ. Hypertrophic obstructive cardiomyopathy in pediatric patients: results of surgical treatment. J Thorac Cardiovasc Surg. 1996;112:1589-1597.