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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...
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...
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 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...
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...

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Related Experiment Video

Updated: May 19, 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

Hypertrophic cardiomyopathy.

Barry J Maron1, Martin S Maron

  • 1The Hypertrophic Cardiomyopathy Centers of Minneapolis Heart Institute Foundation, Minneapolis, MN, USA.

Lancet (London, England)
|August 10, 2012
PubMed
Summary
This summary is machine-generated.

Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition affecting 1 in 500 people. Despite risks like sudden death, effective treatments now improve quality of life and longevity for many diagnosed individuals.

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Inherited Cardiovascular Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiovascular disease affecting 1 in 500 individuals.
  • It stems from over 1400 mutations in genes encoding cardiac sarcomere proteins.
  • HCM is a leading cause of sudden cardiac death in young individuals, including athletes.

Purpose of the Study:

  • To review the current understanding of hypertrophic cardiomyopathy.
  • To highlight diagnostic criteria and available treatment strategies.
  • To discuss the transformation of HCM management over the past 50 years.

Main Methods:

  • Clinical diagnosis relies on identifying unexplained left-ventricular hypertrophy via echocardiography or cardiovascular MRI.
  • Treatment strategies encompass implantable defibrillators, medications, surgical myectomy, alcohol septal ablation, and atrial fibrillation management.
  • Genetic testing identifies mutations, including in patients without evident hypertrophy.

Main Results:

  • Despite its potential severity, many individuals with HCM remain undiagnosed and may not experience significantly reduced life expectancy.
  • Effective treatments are available to prevent sudden death, manage heart failure symptoms, and reduce stroke risk.
  • A subset of patients with genetic mutations but no left-ventricular hypertrophy presents an area for further research.

Conclusions:

  • Hypertrophic cardiomyopathy has evolved from a rare, untreatable condition to a common genetic disease with manageable outcomes.
  • Current management strategies offer realistic prospects for improved quality of life and extended longevity.
  • Continued research is needed, particularly for patients with genetic mutations but without left-ventricular hypertrophy.