Related Experiment Video

Updated: Sep 4, 2025

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

3.5K

What Causes Hypertrophic Cardiomyopathy?

Bradley A Maron1, Rui-Sheng Wang2, Mercedes R Carnethon3

  • 1Division of Cardiovascular Medicine, Department of Medicine and Harvard Medical School, Boston, Massachusetts.

The American Journal of Cardiology
|July 17, 2022
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is not solely genetic. New research suggests acquired factors interacting with genetics create diverse HCM phenotypes, impacting patient care and genetic counseling.

Area of Science:

  • Cardiology
  • Genetics
  • Network Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease, historically attributed to single gene variants in sarcomere proteins.
  • For decades, the understanding of HCM etiology has centered on monogenic causes, impacting patient and family perspectives on genetic inheritance.

Purpose of the Study:

  • To re-evaluate the established genetic basis of HCM.
  • To explore the role of multifactorial etiologies, including acquired determinants interacting with genetic context, in explaining the diverse clinical spectrum of HCM.
  • To inform future genetic counseling and healthcare access for HCM patients.

Main Methods:

  • Analysis of clinical data.
  • Network medicine approaches.
  • Contemporary genetic studies.

Main Results:

  • Single gene variants do not fully account for the broad clinical variability observed in HCM.
  • Interactions between acquired disease factors and genetic predispositions are crucial in developing complex HCM phenotypes.
  • A shift from a purely monogenic to a multifactorial view of HCM etiology is supported by emerging data.

Conclusions:

  • HCM is likely a multifactorial disease, not uniformly genetic.
  • Rethinking the etiology of HCM necessitates adjustments in clinical practice, genetic counseling, and patient support.
  • Future research should focus on the interplay between genetic and acquired factors in HCM pathogenesis.

More Related Videos

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

5.8K
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

10.1K

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...
43
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...
48
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,...
20
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...
30
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...
31
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...
23