title: Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
abstract: 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.
  
  
  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.
authors.affiliation: Department of Pediatrics, Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Kindel
authors.forename: Erin M
authors.initials: EM
authors.lastname: Miller
authors.forename: Resmi
authors.initials: R
authors.lastname: Gupta
authors.forename: Linda H
authors.initials: LH
authors.lastname: Cripe
authors.forename: Robert B
authors.initials: RB
authors.lastname: Hinton
authors.forename: Robert L
authors.initials: RL
authors.lastname: Spicer
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Towbin
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D004452:Echocardiography; D005260:Female; D005820:Genetic Testing; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009820:Ohio / Q000453:epidemiology; D010375:Pedigree; D015995:Prevalence; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D004272:DNA, Mitochondrial