Related Experiment Video

Updated: Sep 14, 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

3.7K

A case of arrhythmic cardiomyopathy caused by rare multiple gene mutations

Kaiqin Liang1, Hong Wang2, Minfang Wu3

  • 1Department of Internal Medicine Nursing, Nursing College of Guangxi Medical University, Nanning, Guangxi, China.

Frontiers in Cardiovascular Medicine
|July 25, 2025
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) can present atypically in older adults. This case highlights complex genetic factors influencing ACM presentation and emphasizes the need for personalized genetic counseling and risk assessment in affected families.

Area of Science:

  • Cardiology
  • Genetics
  • Inherited Diseases

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition typically diagnosed in young adults.
  • It is characterized by ventricular arrhythmias and sudden cardiac death, often affecting the right ventricle.
  • Mutations in desmosomal protein genes are common causes of ACM.

Purpose of the Study:

  • To report a rare case of biventricular arrhythmogenic cardiomyopathy presenting in old age.
  • To investigate the genetic underpinnings of this atypical presentation.
  • To highlight the complexity of genotype-phenotype correlations in ACM.

Main Methods:

  • Case report of a patient with late-onset biventricular ACM.
  • Comprehensive genetic testing of the proband and family members.
  • Literature review for similar cases.
  • One-year follow-up of family members.

Main Results:

  • The proband presented with syncope, ventricular tachycardia, and heart failure in old age.
  • Genetic analysis revealed three rare variants in desmosomal and non-desmosomal genes.
  • Significant variability in age of onset and disease severity was observed among family members with shared genetic variants.
  • No similar cases were found in existing literature.

Conclusions:

  • ACM genotype-phenotype expression is complex and can manifest late in life.
  • Multiple genetic variants may contribute to ACM pathogenesis.
  • Individualized risk assessment, management, and genetic counseling are crucial for ACM patients and families.

Keywords:
arrhythmogenic cardiomyopathycardiovascular magnetic resonancedesmoplakinpedigreephenotypesudden cardiac death

More Related Videos

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

1.3K
Functional Characterization of Endogenously Expressed Human RYR1 Variants07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

2.7K

Related Concept Videos

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...
57
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...
52
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...
33
Mechanism of Cardiac Arrhythmias01:28

Mechanism of Cardiac Arrhythmias

Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.
1.1K
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,...
23
Disturbances in Heart Rhythm01:29

Disturbances in Heart Rhythm

Arrhythmia or dysrhythmia refers to an abnormal heart rhythm caused by a defect in the heart's conduction system. It can cause the heart to beat irregularly, too quickly, or too slowly, leading to symptoms like chest pain, shortness of breath, and fainting. Factors such as stress, caffeine, alcohol, nicotine, cocaine, certain drugs, congenital defects, diseases, and electrolyte abnormalities can trigger arrhythmias.
Arrhythmias are categorized by their speed, rhythm, and origin. A slow heart...
1.3K