Hypertrophic cardiomyopathy in children: Clinical manifestations and diagnosis
- John Jefferies, MD, MPH, FACC, FAHA
John Jefferies, MD, MPH, FACC, FAHA
- Professor, Pediatric Cardiology and Adult Cardiovascular Diseases
- The Heart Institute
- Professor, Division of Human Genetics
- Cincinnati Children’s Hospital Medical Center
- Thomas D Ryan, MD, PhD
Thomas D Ryan, MD, PhD
- Assistant Professor of Pediatrics
- The Heart Institute, Cincinnati Children's Hospital Medical Center
- Martin S Maron, MD
Martin S Maron, MD
- Assistant Professor of Medicine
- Tufts University School of Medicine
- Section Editor
- John K Triedman, MD
John K Triedman, MD
- Section Editor — Pediatric Cardiology
- Professor of Pediatrics
- Harvard Medical School
- Deputy Editors
- Brian C Downey, MD, FACC
Brian C Downey, MD, FACC
- Deputy Editor — Cardiology
- Assistant Professor of Medicine
- Tufts University School of Medicine
- Carrie Armsby, MD, MPH
Carrie Armsby, MD, MPH
- Senior Deputy Editor — UpToDate
- Deputy Editor — Pediatrics
- University of Massachusetts School of Medicine
Hypertrophic cardiomyopathy (HCM) is one of the most common forms of inherited cardiomyopathy in both adults and children, and it is characterized by hypertrophy of the left ventricle (LV) which sometimes involves the right ventricle. The disease course is highly variable, but it is well recognized that there is an increased risk of morbidity and sudden cardiac death (SCD). (See "Sudden cardiac arrest and death in children".)
In broad terms, the symptoms related to HCM can be categorized as those related to heart failure, chest pain, or arrhythmias. Patients with HCM have an increased incidence of both supraventricular and ventricular arrhythmias and are at an increased risk for SCD. Overall, age at death has a bimodal distribution with the highest frequencies in infancy and adolescence, and the poorest survival in patients with inborn errors of metabolism and malformation syndromes diagnosed before one year of age . HCM is the most common cause of SCD in young, athletic, seemingly healthy individuals, accounting for more than one-third of SCD cases . (See "Hypertrophic cardiomyopathy: Prevalence, pathophysiology, and management of concurrent atrial arrhythmias" and "Hypertrophic cardiomyopathy: Assessment and management of ventricular arrhythmias and sudden cardiac death risk".)
Importantly, no medical treatments have been shown to alter disease progression. Management strategies are focused on symptom improvement, with utilization of potentially life-saving therapy in the form of implantable cardioverter defibrillators (ICDs) in patients deemed to be at high risk of SCD.
This topic will review the epidemiology, clinical manifestations, and diagnosis of HCM in children. The management an prognosis of HCM in children are discussed separately. (See "Hypertrophic cardiomyopathy in children: Management and prognosis".)
The clinical manifestations, diagnosis, management, and natural history of HCM in adults are discussed separately:To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Colan SD, Lipshultz SE, Lowe AM, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation 2007; 115:773.
- Maron BJ, Doerer JJ, Haas TS, et al. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 2009; 119:1085.
- Nugent AW, Daubeney PE, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003; 348:1639.
- Veselka J, Anavekar NS, Charron P. Hypertrophic obstructive cardiomyopathy. Lancet 2017; 389:1253.
- Wilkinson JD, Lowe AM, Salbert BA, et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012; 164:442.
- 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; 348:1647.
- Arola A, Jokinen E, Ruuskanen O, et al. Epidemiology of idiopathic cardiomyopathies in children and adolescents. A nationwide study in Finland. Am J Epidemiol 1997; 146:385.
- 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.
- Maron BJ, Tajik AJ, Ruttenberg HD, et al. Hypertrophic cardiomyopathy in infants: clinical features and natural history. Circulation 1982; 65:7.
- Colan DC. Cardiomyopathies. In: Nadas' Pediatric Cardiology, 2nd Ed, Keane JF, Lock JE, Fyler DC (Eds), Saunders, Philadelphia 2006. p.432.
- Yetman AT, Hamilton RM, Benson LN, McCrindle BW. Long-term outcome and prognostic determinants in children with hypertrophic cardiomyopathy. J Am Coll Cardiol 1998; 32:1943.
- Yetman AT, McCrindle BW, MacDonald C, et al. Myocardial bridging in children with hypertrophic cardiomyopathy--a risk factor for sudden death. N Engl J Med 1998; 339:1201.
- Mohiddin SA, Begley D, Shih J, Fananapazir L. Myocardial bridging does not predict sudden death in children with hypertrophic cardiomyopathy but is associated with more severe cardiac disease. J Am Coll Cardiol 2000; 36:2270.
- Nishimura RA, Holmes DR Jr. Clinical practice. Hypertrophic obstructive cardiomyopathy. N Engl J Med 2004; 350:1320.
- Pollick C, Morgan CD, Gilbert BW, et al. Muscular subaortic stenosis: the temporal relationship between systolic anterior motion of the anterior mitral leaflet and the pressure gradient. Circulation 1982; 66:1087.
- Wigle ED, Sasson Z, Henderson MA, et al. Hypertrophic cardiomyopathy. The importance of the site and the extent of hypertrophy. A review. Prog Cardiovasc Dis 1985; 28:1.
- Maron BJ, Gottdiener JS, Arce J, et al. Dynamic subaortic obstruction in hypertrophic cardiomyopathy: analysis by pulsed Doppler echocardiography. J Am Coll Cardiol 1985; 6:1.
- Panza JA, Petrone RK, Fananapazir L, Maron BJ. Utility of continuous wave Doppler echocardiography in the noninvasive assessment of left ventricular outflow tract pressure gradient in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 1992; 19:91.
- Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011; 124:2761.
- Colan SD. Normal echocardiographic values for cardiovascular structures, Appendix 1. In: Echocardiography in Pediatric and Congenital Heart Disease, Lai WW, Cohen MS, Geva T, Mertens L (Eds), Wiley-Blackwell, West Sussex, UK 2009. p.765.
- Paramater(z) left ventricular wall thickness z-scores. http://www.parameterz.com/ (Accessed on May 19, 2016).
- Moak JP, Leifer ES, Tripodi D, et al. Long-term follow-up of children and adolescents diagnosed with hypertrophic cardiomyopathy: risk factors for adverse arrhythmic events. Pediatr Cardiol 2011; 32:1096.
- Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54:201.
- Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012; 60:705.
- Bos JM, Will ML, Gersh BJ, et al. Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. Mayo Clin Proc 2014; 89:727.
- Vermeer AMC, Clur SB, Blom NA, et al. Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive. J Pediatr 2017; 188:91.
- Morita H, Rehm HL, Menesses A, et al. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 2008; 358:1899.
- Satoh M, Takahashi M, Sakamoto T, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999; 262:411.
- Hussain T, Dragulescu A, Benson L, et al. Quantification and significance of diffuse myocardial fibrosis and diastolic dysfunction in childhood hypertrophic cardiomyopathy. Pediatr Cardiol 2015; 36:970.
- Maron BJ, Seidman JG, Seidman CE. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44:2125.
- Authors/Task Force members, Elliott PM, Anastasakis A, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35:2733.
- Nagueh SF, Bachinski LL, Meyer D, et al. Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. Circulation 2001; 104:128.
- Ho CY, Sweitzer NK, McDonough B, et al. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation 2002; 105:2992.
- Nagueh SF, McFalls J, Meyer D, et al. Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease. Circulation 2003; 108:395.
- CLINICAL MANIFESTATIONS
- Signs and symptoms
- Physical examination
- DIAGNOSTIC EVALUATION
- Clinical suspicion
- Aims of diagnostic testing
- Genetic testing
- Additional testing
- DIFFERENTIAL DIAGNOSIS
- SCREENING OF FIRST-DEGREE RELATIVES
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS