Related Experiment Video

Updated: May 16, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy

Noboru Fujino1, Tetsuo Konno, Kenshi Hayashi

  • 1Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa-City, Japan. nfujino@mhs.mp.kanazawa-u.ac.jp

Clinical Cardiology
|December 1, 2012
PubMed

Insights

Sarcomere gene mutations in hypertrophic cardiomyopathy (HCM) can lead to systolic dysfunction, particularly in non-MYBPC3 carriers. This condition often results in fatal outcomes, highlighting the need for vigilant management in affected individuals.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary sarcomere disease.
  • Systolic dysfunction occurs in approximately 5% of HCM cases, associated with a poor prognosis.
  • Limited data exist on systolic dysfunction in genotyped HCM populations.

Purpose of the Study:

  • To evaluate systolic dysfunction and prognosis in carriers of sarcomere gene mutations.
  • To identify factors associated with the development of systolic dysfunction.
  • To compare outcomes between different mutation types.

Main Methods:

  • Included 157 sarcomere gene mutation carriers from 69 HCM families.
  • Conducted serial echocardiograms on 107 subjects after baseline exclusion.
  • Utilized multivariate Cox analysis and Kaplan-Meier survival analysis.

Main Results:

  • Systolic dysfunction developed in 12 subjects over a mean 7.0-year follow-up.
  • Initial age and ejection fraction predicted systolic dysfunction.
  • Non-MYBPC3 mutation carriers showed a higher rate of systolic dysfunction compared to MYBPC3 carriers (P=0.010).
  • Absence of MYBPC3 mutations was linked to increased risk (P=0.042).
  • 11 of 12 subjects with systolic dysfunction died within 8.3 years.

Conclusions:

  • Non-MYBPC3 mutation carriers have a greater risk of developing left ventricular systolic dysfunction.
  • Systolic dysfunction in sarcomere gene mutation carriers frequently leads to fatal outcomes.
  • Close monitoring and management of systolic dysfunction are crucial for these patients.
Abstract

More Related Videos

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

Related Concept Videos

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...
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
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...
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 I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...