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

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

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


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
Issue number2
StatePublished - Feb 2008
Externally publishedYes


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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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