Pediatric cardiomyopathy: Importance of genetic and metabolic evaluation

Steven J. Kindel, Erin M. Miller, Resmi Gupta, Linda H. Cripe, Robert B. Hinton, Robert L. Spicer, Jeffrey A. Towbin, Stephanie M. Ware

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


Background: Cardiomyopathy is a heterogeneous disease with a strong genetic component. A research-based pediatric cardiomyopathy registry identified familial, syndromic, or metabolic causes in 30% of children. However, these results predated clinical genetic testing. Methods and Results: We determined the prevalence of familial, syndromic, or metabolic causes in 83 consecutive unrelated patients referred for genetic evaluation of cardiomyopathy from 2006 to 2009. Seventy-six percent of probands (n = 63) were categorized as familial, syndromic, or metabolic. Forty-three percent (n = 18) of hypertrophic cardiomyopathy (HCM) patients had mutations in sarcomeric genes, with MYH7 and MYBPC3 mutations predominating. Syndromic (17%; n = 7) and metabolic (26%; n = 11) causes were frequently identified in HCM patients. The metabolic subgroup was differentiated by decreased endocardial shortening fraction on echocardiography. Dilated cardiomyopathy (DCM) patients had similar rates of syndromic (20%; n = 5) and metabolic (16%; n = 4) causes, but fewer familial cases (24%; n = 6) compared with HCM patients. Conclusions: The cause of cardiomyopathy is identifiable in a majority of affected children. An underlying metabolic or syndromic cause is identified in >35% of children with HCM or DCM. Identification of etiology is important for management, family-based risk assessment, and screening.

Original languageEnglish (US)
Pages (from-to)396-403
Number of pages8
JournalJournal of Cardiac Failure
Issue number5
StatePublished - May 2012
Externally publishedYes


  • Cardiomyopathy
  • genetic testing
  • genetics
  • heart failure
  • mutation

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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