MYH7 mutation identified by next-generation sequencing in three infant siblings with bi-ventricular noncompaction presenting with restrictive hemodynamics

摘要

Noncompaction of the ventricular myocardium (NVM) is a genetically heterogeneous cardiomyopathy. Various mutations associated with NVM have been identified in several genes. NVM patients usually present with complications of dilated cardiomyopathy.We identified a missense mutation, c.5740G>A, p.Glu1914Lys of MYH7, by targeted next-generation sequencing in three infant siblings with isolated bi-ventricular noncompaction who presented with restrictive hemodynamics and severe clinical courses. This mutation appears to be associated with a severe phenotype and poor prognosis. Early heart transplantation should be considered in similar cases.<>Learning objective: No clear noncompaction of the ventricular myocardium genotype-phenotype correlations have been found to predict the clinical course. This report describes a MYH7 mutation in three infant siblings with isolated bi-ventricular noncompaction who presented with restrictive hemodynamics and severe clinical courses. Early heart transplantation should be considered in cases with a similar genotype and/or phenotype.>