Related Experiment Video

Updated: Aug 11, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

2.4K

A case report of MYH7 mutation-induced restrictive cardiomyopathy

Shaozhen Zhang1, Wang Zhao1

  • 1Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, No. 139, Middle Renmin Road, Changsha, Hunan 410011, China.

European Heart Journal. Case Reports
|April 28, 2025
PubMed

Insights

Genetic variants in the MYH7 gene can cause restrictive cardiomyopathy (RCM), a condition affecting heart muscle function. This case highlights variable presentations of MYH7-induced RCM, even within families.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Restrictive cardiomyopathy (RCM) is defined by diastolic dysfunction and impaired ventricular filling.
  • Genetic and environmental factors contribute to RCM development.
  • The MYH7 gene, crucial for muscle contraction, is linked to RCM.

Observation:

  • A case study details a female patient with recurrent chest tightness and shortness of breath.
  • Imaging and genetic testing confirmed MYH7-induced RCM in the patient.
  • Her daughter inherited the MYH7 variant but exhibited a hypertrophic phenotype.

Findings:

  • MYH7-induced cardiomyopathy presents with diverse clinical manifestations and phenotypes.
  • Diagnostic approaches like imaging and endomyocardial biopsy have limitations.
  • Genetic testing is crucial for diagnosing MYH7-related cardiomyopathies.

Implications:

  • Further research is essential to understand the pathogenesis of MYH7-induced RCM.
  • Developing safer and more cost-effective diagnostic methods is a priority.
  • Understanding genotype-phenotype correlations in MYH7 cardiomyopathies is critical for patient management.
Abstract

Keywords:
Case reportGene mutationHypertrophic cardiomyopathyMYH7 geneRestrictive cardiomyopathy

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

2.9K
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

1.1K

Related Concept Videos

Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...