Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail 2012 May;18(5):396-403
Date
05/05/2012Pubmed ID
22555271Pubmed Central ID
PMC3345128DOI
10.1016/j.cardfail.2012.01.017Scopus ID
2-s2.0-84860457415 (requires institutional sign-in at Scopus site) 100 CitationsAbstract
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.
Author List
Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL, Towbin JA, Ware SMAuthor
Steven J. Kindel MD Associate Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentCardiomyopathies
Carrier Proteins
Child
Child, Preschool
DNA, Mitochondrial
Echocardiography
Female
Genetic Testing
Heart Ventricles
Humans
Infant
Male
Mutation
Ohio
Pedigree
Prevalence
Retrospective Studies
Young Adult
