Pediatric restrictive cardiomyopathy associated with a mutation in β-myosin heavy chain

Stephanie Ware, M. E. Quinn, E. T. Ballard, E. Miller, K. Uzark, R. L. Spicer

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Most children do not have a known cause of cardiomyopathy which limits the potential for disease-specific therapies. Of the different phenotypic presentations of cardiomyopathy, the restrictive form carries the poorest prognosis and has the lowest rate of identification of etiology. We present the first description of a β-myosin heavy chain gene mutation in an infant with restrictive cardiomyopathy requiring cardiac transplantation. As demonstrated by three-dimensional protein structure modeling, the missense mutation is in a highly conserved amino acid at the critical binding region for the essential light chain. This case emphasizes that mutations in sarcomeric proteins, which are known to cause hypertrophic cardiomyopathy in adults, may be associated with the development of restrictive physiology in childhood. Identification of the genetic basis of pediatric cardiomyopathy has important implications for management and genetic counseling.

Original languageEnglish (US)
Pages (from-to)165-170
Number of pages6
JournalClinical Genetics
Volume73
Issue number2
DOIs
StatePublished - Feb 2008
Externally publishedYes

Fingerprint

Restrictive Cardiomyopathy
Myosin Heavy Chains
Cardiomyopathies
Pediatrics
Mutation
Hypertrophic Cardiomyopathy
Genetic Counseling
Missense Mutation
Heart Transplantation
Proteins
Light
Amino Acids
Genes
Therapeutics

Keywords

  • β-myosin heavy chain
  • Cardiac transplantation
  • Gene mutation
  • Restrictive cardiomyopathy
  • Sarcomere

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Pediatric restrictive cardiomyopathy associated with a mutation in β-myosin heavy chain. / Ware, Stephanie; Quinn, M. E.; Ballard, E. T.; Miller, E.; Uzark, K.; Spicer, R. L.

In: Clinical Genetics, Vol. 73, No. 2, 02.2008, p. 165-170.

Research output: Contribution to journalArticle

Ware, Stephanie ; Quinn, M. E. ; Ballard, E. T. ; Miller, E. ; Uzark, K. ; Spicer, R. L. / Pediatric restrictive cardiomyopathy associated with a mutation in β-myosin heavy chain. In: Clinical Genetics. 2008 ; Vol. 73, No. 2. pp. 165-170.
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