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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

48
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...
48
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

53
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...
53
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

22
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,...
22
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

33
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...
33
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

41
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...
41
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

31
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...
31

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Related Experiment Video

Updated: Sep 11, 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

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Hypertrophic cardiomyopathy.

Alessia Argirò1, Victoria Parikh2, Ruxandra Jurcut3,4

  • 1Cardiomyopathy Unit, University of Florence, Florence, Italy.

Nature Reviews. Disease Primers
|August 14, 2025
PubMed
Summary
This summary is machine-generated.

Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition caused by genetic defects. New targeted therapies, like myosin inhibitors, are improving patient outcomes and symptoms.

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Last Updated: Sep 11, 2025

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Area of Science:

  • Cardiology
  • Genetics
  • Molecular Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy, a significant cause of illness and death.
  • It is a sarcomeric disease resulting from genetic defects in sarcomere proteins, leading to left ventricular hypertrophy, hypercontractility, and diastolic dysfunction.
  • HCM presents a heterogeneous spectrum of phenotypes, from mild, stable forms to severe childhood-onset cases causing heart failure and arrhythmias.

Purpose of the Study:

  • To provide an overview of hypertrophic cardiomyopathy, encompassing its genetic basis, clinical presentation, diagnostic methods, and evolving therapeutic landscape.
  • To highlight recent advancements in targeted therapies and future directions for managing HCM.

Main Methods:

  • Review of current literature on hypertrophic cardiomyopathy genetics, pathophysiology, diagnosis, and treatment.
  • Analysis of the efficacy and safety of novel therapeutic agents, including myosin inhibitors.
  • Discussion of emerging treatment modalities, such as gene therapy.

Main Results:

  • Multi-imaging techniques like echocardiography and cardiac MRI are crucial for HCM diagnosis and prognosis.
  • Myosin inhibitors have demonstrated safety and efficacy in improving functional capacity and alleviating symptoms in HCM patients.
  • Gene therapies targeting underlying genetic variants are under investigation as innovative treatment approaches.

Conclusions:

  • HCM is a complex genetic disorder with a wide clinical variability.
  • Recent therapeutic developments, particularly myosin inhibitors, offer significant improvements for patients.
  • Future research in gene therapy holds promise for addressing the root cause of HCM.