Mutation of theMYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome

Abstract

Familial hypertrophic cardiomyopathy (HCM) displays autosomal dominant inheritance with incomplete penetration of defective genes. Data concerning the familial occurrence of ventricular preexcitation, i.e. Wolff-Parkinson-White (WPW) syndrome, also indicate autosomal dominant inheritance. In the literature, only a gene mutation on chromosome 7q3 has been described in familial HCM coexisting with WPW syndrome to date. The present paper describes the case of a 7-year-old boy with HCM and coexisting WPW syndrome. On his chromosome 14, molecular diagnostics revealed a C 9123 mutation (arginine changed into cysteine in position 453) in exon 14 in a copy of the gene for beta-myosin heavy chain (MYH7). It is the first known case of mutation of the MYH7 gene in a child with both HCM and WPW. Since no linkage between MYH7 mutation and HCM with WPW syndrome has been reported to date, we cannot conclude whether the observed mutation is a common cause for both diseases, or this patient presents an incidental co-occurrence of HCM (caused by MYH7 mutation) and WPW syndrome.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

“…Previously linked to atrial septal defect, dilated cardiomyopathy, and HCM (MIM: 614089; MIM: 613252; MIM: 613251), this was the first report in which MYH6 was implicated in WPW in a single family. Likewise, a rare variant in MYH7 was described in an individual with HCM and WPW syndrome (Bobkowski et al, 2007). These reports underscore the need for large systematic studies to address the genetic susceptibility in individuals with WPW, for both prognostication and genetic counseling for at‐risk families.…”

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

“…All patients originated from the Safor region in Spain and carried the p.K1729del mutation in MYH7. 26 In addition to clinical phenotypic variability, wide electrophysiologic and pathologic profiles were observed. 7,16 The present study provides novel clinical aspects of Laing distal myosinopathy, widening the spectrum of onset, the extension of muscle involvement, and severity.…”

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families

“…2,7,20 Other genes, such as transcription factors, implicated in the cardiac development, may serve as interesting candidates in contributing to the pathogenesis of WPW syndrome. The NKX2-5 gene was shown to be critically involved in the development of cardiac conduction disease.…”