Related Experiment Video

Updated: Jan 12, 2026

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

10.5K

Mechanisms and Therapies of Hypertrophic Cardiomyopathy

Niels Pietsch1,2, Sonia R Singh1,2, Lucie Carrier1,2

  • 1Institute of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; email: n.pietsch@uke.de, s.singh@uke.de, l.carrier@uke.de.

Annual Review of Physiology
|November 7, 2025
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease caused by sarcomere defects. New research explores diverse mechanisms and targeted therapies like myosin inhibitors for this common myocardial condition.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, characterized by left ventricular hypertrophy (LVH).
  • Genetic variants in sarcomere proteins are primary causes, affecting cardiomyocyte contractility.
  • A significant portion of HCM cases lack identified pathogenic variants, suggesting other genetic origins or mechanisms.

Purpose of the Study:

  • To review current knowledge on the genetics of HCM.
  • To summarize the diverse molecular and cellular mechanisms underlying HCM pathogenesis.
  • To discuss emerging targeted treatments for hypertrophic cardiomyopathy.

Main Methods:

  • Literature review of genetics, molecular mechanisms, and therapeutic strategies for HCM.
  • Analysis of research identifying sarcomere variants and other contributing factors.
  • Examination of preclinical and translational studies for novel treatments.

Main Results:

  • Over 35 years, numerous genetic variants in sarcomere components have been linked to HCM.
  • Beyond sarcomere defects, HCM involves altered calcium handling, proteolysis, and microtubule function.
  • Non-cardiomyocyte cell types also contribute to HCM development.
  • Myosin inhibitors and gene-based therapies are advancing as targeted treatments.

Conclusions:

  • HCM is a complex genetic disease with multiple contributing molecular and cellular pathways.
  • Understanding these diverse mechanisms is crucial for developing effective therapies.
  • Targeted treatments, including myosin inhibitors, offer new hope for HCM patients.

Keywords:
gene therapyhypertrophic cardiomyopathymyosin inhibitorspathomechanismssarcomere

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

6.1K
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

4.2K

Related Concept Videos

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...
323
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...
380
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,...
451
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...
695
Myocarditis III: Medical Management01:14

Myocarditis III: Medical Management

Myocarditis: Comprehensive Medical ManagementMyocarditis, the heart muscle inflammation, requires a comprehensive medical management strategy that addresses the underlying cause, provides supportive care, manages symptoms, and reduces cardiac workload.Infections and Autoimmune CausesAdminister appropriate antimicrobial therapy when an infectious agent causes myocarditis. For instance, penicillin treats infections caused by Group A Streptococcus. In cases where autoimmune processes are...
168
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...
2.7K