Related Experiment Video

Updated: Jun 24, 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

Neuromuscular disorders associated with apical hypertrophic cardiomyopathy

Josef Finsterer1, Claudia Stöllberger

  • 1Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de

Acta Cardiologica
|March 26, 2009
PubMed

Insights

Apical hypertrophic cardiomyopathy (AHC) is rarely linked to neuromuscular disorders (NMDs). Patients with AHC and NMDs have similar outcomes to those with AHC alone, suggesting potential underdiagnosis of NMDs in AHC patients.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Cardiomyopathy frequently occurs in patients with neuromuscular disorders (NMDs).
  • Apical hypertrophic cardiomyopathy (AHC) is a specific form of cardiomyopathy.

Purpose of the Study:

  • To determine the frequency of AHC in patients with NMDs.
  • To identify specific NMDs associated with AHC.
  • To compare patient outcomes between AHC with and without NMDs.

Main Methods:

  • A comprehensive literature review was conducted using Medline (PubMed).
  • Search terms included AHC, apical hypertrophy, NMD, myopathy, muscular dystrophy, skeletal muscle, and cardiac involvement.

Main Results:

  • AHC is infrequently associated with NMDs.
  • AHC has been documented in various NMDs, including limb girdle muscular dystrophy, glycogen storage disease, mitochondrial disorders, and metabolic myopathies.
  • Patient outcomes for AHC with NMDs did not differ significantly from those with AHC alone.

Conclusions:

  • The association between AHC and NMDs is rare.
  • Specific NMDs linked to AHC include limb girdle muscular dystrophy, glycogen storage disease, metabolic myopathy, and myopathy of unknown significance.
  • The rarity may stem from insufficient systematic neurologic evaluations in AHC patients and vice versa.
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...
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 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 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 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...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...