MYH7 mutation identified by next-generation sequencing in three infant siblings with bi-ventricular noncompaction presenting with restrictive hemodynamics: A report of three siblings with a severe phenotype and poor prognosis

• Published in: Journal of cardiology cases Vol. 19; no. 4; pp. 140 - 143
• Main Authors: Miura, Fumitake, Shimada, Jun, Kitagawa, Yosuke, Otani, Katsuki, Sato, Takumi, Toki, Tsutomu, Takahashi, Toru, Yonesaka, Susumu, Mizukami, Hiroki, Ito, Etsuro
• Format: Journal Article
• Language: English
• Published: Japan Japanese College of Cardiology 01-04-2019
• Subjects: Restrictive cardiomyopathy; Next-generation sequencing; Sarcomere; Ventricular noncompaction; MYH7
• ISSN: 1878-5409
• DOI: 10.1016/j.jccase.2018.12.017

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
, 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. <
No clear noncompaction of the ventricular myocardium genotype-phenotype correlations have been found to predict the clinical course. This report describes a
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.>.