Document Detail

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
MedLine Citation:
PMID:  22555271     Owner:  NLM     Status:  MEDLINE    
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.
Steven J Kindel; Erin M Miller; Resmi Gupta; Linda H Cripe; Robert B Hinton; Robert L Spicer; Jeffrey A Towbin; Stephanie M Ware
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-03-10
Journal Detail:
Title:  Journal of cardiac failure     Volume:  18     ISSN:  1532-8414     ISO Abbreviation:  J. Card. Fail.     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-05-04     Completed Date:  2012-10-09     Revised Date:  2014-09-18    
Medline Journal Info:
Nlm Unique ID:  9442138     Medline TA:  J Card Fail     Country:  United States    
Other Details:
Languages:  eng     Pagination:  396-403     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
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MeSH Terms
Cardiomyopathies / epidemiology,  genetics*,  metabolism
Carrier Proteins / genetics*,  metabolism
Child, Preschool
DNA, Mitochondrial / genetics*
Genetic Testing
Heart Ventricles / physiopathology,  ultrasonography
Ohio / epidemiology
Retrospective Studies
Young Adult
Grant Support
R01 HL087000/HL/NHLBI NIH HHS; R01 HL087000-01A1/HL/NHLBI NIH HHS; R01 HL087000-01A1/HL/NHLBI NIH HHS
Reg. No./Substance:
0/Carrier Proteins; 0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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