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 Ware

Research output: Contribution to journalArticle

52 Citations (Scopus)

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. 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
Volume18
Issue number5
DOIs
StatePublished - May 2012
Externally publishedYes

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Cardiomyopathies
Hypertrophic Cardiomyopathy
Pediatrics
Dilated Cardiomyopathy
Mutation
Genetic Testing
Registries
Echocardiography
Research
Genes

Keywords

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

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Kindel, S. J., Miller, E. M., Gupta, R., Cripe, L. H., Hinton, R. B., Spicer, R. L., ... Ware, S. (2012). Pediatric cardiomyopathy: Importance of genetic and metabolic evaluation. Journal of Cardiac Failure, 18(5), 396-403. https://doi.org/10.1016/j.cardfail.2012.01.017

Pediatric cardiomyopathy : Importance of genetic and metabolic evaluation. / Kindel, Steven J.; Miller, Erin M.; Gupta, Resmi; Cripe, Linda H.; Hinton, Robert B.; Spicer, Robert L.; Towbin, Jeffrey A.; Ware, Stephanie.

In: Journal of Cardiac Failure, Vol. 18, No. 5, 05.2012, p. 396-403.

Research output: Contribution to journalArticle

Kindel, SJ, Miller, EM, Gupta, R, Cripe, LH, Hinton, RB, Spicer, RL, Towbin, JA & Ware, S 2012, 'Pediatric cardiomyopathy: Importance of genetic and metabolic evaluation', Journal of Cardiac Failure, vol. 18, no. 5, pp. 396-403. https://doi.org/10.1016/j.cardfail.2012.01.017
Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL et al. Pediatric cardiomyopathy: Importance of genetic and metabolic evaluation. Journal of Cardiac Failure. 2012 May;18(5):396-403. https://doi.org/10.1016/j.cardfail.2012.01.017
Kindel, Steven J. ; Miller, Erin M. ; Gupta, Resmi ; Cripe, Linda H. ; Hinton, Robert B. ; Spicer, Robert L. ; Towbin, Jeffrey A. ; Ware, Stephanie. / Pediatric cardiomyopathy : Importance of genetic and metabolic evaluation. In: Journal of Cardiac Failure. 2012 ; Vol. 18, No. 5. pp. 396-403.
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