Key result
A beta-myosin heavy chain gene missense mutation was associated with the development of restrictive cardiomyopathy requiring cardiac transplantation in an infant.
Case Report (n=1)
Mutations in sarcomeric proteins, typically associated with adult hypertrophic cardiomyopathy, can also cause restrictive cardiomyopathy in childhood, highlighting the importance of genetic testing in pediatric cardiomyopathy.
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Caution against routine genetic panel expansion; leaves open whether beta-myosin mutations cause infantile restrictive cardiomyopathy.
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 beta-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.
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Ware et al. (2007) conducted a case report in Restrictive cardiomyopathy (n=1). beta-myosin heavy chain gene mutation was evaluated. A beta-myosin heavy chain gene missense mutation was associated with the development of restrictive cardiomyopathy requiring cardiac transplantation in an infant.
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