MYH7 Mutations in Restrictive Cardiomyopathy.

ABSTRACT:

Background

Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by impaired ventricular filling and relaxation, with preserved systolic function. This study investigates the genetic basis of RCM and its impact on clinical outcomes, particularly heart transplantation (HTx).

Objectives

The aim of the study was to identify genetic variations associated with RCM and assess their impact on disease progression and HTx necessity.

Methods

A retrospective analysis was conducted on 94 RCM patients from Fuwai Hospital (2003-2021), diagnosed via echocardiography or pathological examination. Whole exome sequencing screened patient samples for variants in key genes associated with RCM, validated via Sanger sequencing. Histopathological analysis of explanted hear

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC12102527 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature