Premium
Pediatric restrictive cardiomyopathy associated with a mutation in β‐myosin heavy chain
Author(s) -
Ware SM,
Quinn ME,
Ballard ET,
Miller E,
Uzark K,
Spicer RL
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00939.x
Subject(s) - missense mutation , cardiomyopathy , restrictive cardiomyopathy , mutation , genetics , medicine , myh6 , etiology , hypertrophic cardiomyopathy , biology , bioinformatics , myh7 , gene , heart failure , gene isoform
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.