Cardiomyopathies in children

Overview & Definition

A cardiomyopathy is a disease of the heart muscle in which the abnormality of structure or function is intrinsic to the myocardium itself, not the secondary consequence of hypertension, valve disease, or congenital obstruction. The 2006 American Heart Association scientific statement defined the cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction", and the 2008 European Society of Cardiology position statement framed the same idea operationally: classify by morphology first, then ask what caused it. Together these two documents are the frame every fellowship candidate must reproduce when asked "what is a cardiomyopathy?" [2] [3]

In children the cardiomyopathies behave very differently from the adult disease. They are uncommon — the population incidence is roughly one per hundred thousand children per year — yet they are the single largest diagnosis group leading to paediatric heart transplantation, and sudden cardiac death in the young is dominated by occult cardiomyopathy. The clinical problem they pose is therefore not the volume of cases but the gravity of each one: a missed diagnosis is a child who collapses on the sports field, or an infant who presents in fulminant heart failure. [1] [6]

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1. [1]Lipshultz SE; Sleeper LA; Towbin JA; Lowe AM; Orav EJ; Cox GF; et al The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med, 2003.PMID 12711739
2. [2]Maron BJ; Towbin JA; Thiene G; Antzelevitch C; Corrado D; Arnett D; et al Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement. Circulation, 2006.PMID 16567565
3. [3]Elliott P; Andersson B; Arbustini E; Bilinska Z; Cecchi F; Charron P; et al Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J, 2008.PMID 17916581
4. [4]Maron BJ Hypertrophic cardiomyopathy: a systematic review. JAMA, 2002.PMID 11886323
5. [5]Maron BJ; Shen WK; Link MS; Epstein AE; Almquist AK; Daubert JP; et al Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med, 2000.PMID 10666426
6. [6]Bagnall RD; Weintraub RG; Ingles J; Duflou J; Yeates L; Lam L; et al A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med, 2016.PMID 27332903
7. [7]Shaddy RE; Boucek MM; Hsu DT; Boucek RJ; Canter CE; Mahony L; et al Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA, 2007.PMID 17848651
8. [8]Burkett EL; Hershberger RE Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol, 2005.PMID 15808750
9. [9]Alexander PMA; Nugent AW; Daubeney PEF; Lee KJ; Sleeper LA; Schuster T; et al Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study. Circulation, 2018.PMID 29490994
10. [10]Shi WY; Moreno-Betancur M; Nugent AW; Cheung M; Colan S; Turner C; et al Long-Term Outcomes of Childhood Left Ventricular Noncompaction Cardiomyopathy: Results From a National Population-Based Study. Circulation, 2018.PMID 29514799