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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Pediatric cardiomyopathy: importance of genetic and metabolic evaluation

Steven J Kindel1, Erin M Miller, Resmi Gupta

  • 1Department of Pediatrics, Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

Journal of Cardiac Failure
|May 5, 2012
PubMed

Insights

Genetic testing identifies the cause of cardiomyopathy in most children. Metabolic or syndromic factors are found in over 35% of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) cases, aiding management and risk assessment.

Area of Science:

  • Pediatric Cardiology
  • Medical Genetics

Background:

  • Cardiomyopathy has a significant genetic basis, with previous studies identifying familial, syndromic, or metabolic causes in 30% of pediatric cases.
  • These earlier findings were based on data collected before the widespread adoption of clinical genetic testing.

Purpose of the Study:

  • To determine the prevalence of familial, syndromic, or metabolic etiologies in children with cardiomyopathy undergoing genetic evaluation.
  • To assess the diagnostic yield of genetic testing in this pediatric population.

Main Methods:

  • Evaluated 83 consecutive unrelated pediatric patients referred for genetic evaluation of cardiomyopathy between 2006 and 2009.
  • Categorized patients based on familial, syndromic, or metabolic causes.
  • Analyzed hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) subgroups separately.

Main Results:

  • Seventy-six percent of probands were diagnosed with familial, syndromic, or metabolic causes.
  • In HCM patients, 43% had sarcomeric gene mutations (predominantly MYH7, MYBPC3), and syndromic (17%) or metabolic (26%) causes were common.
  • DCM patients showed similar rates of syndromic (20%) and metabolic (16%) causes, but fewer familial cases (24%) compared to HCM.
  • Metabolic cardiomyopathy was associated with decreased endocardial shortening fraction on echocardiography.

Conclusions:

  • The etiology of cardiomyopathy is identifiable in the majority of affected children.
  • Over 35% of children with HCM or DCM have an identifiable underlying metabolic or syndromic cause.
  • Identifying the specific cause is crucial for effective patient management, family risk assessment, and targeted screening protocols.
Abstract

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