Related Experiment Video
Updated: May 16, 2026
09:36
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy
Alessandra Lorenzon1, Giorgia Beffagna, Barbara Bauce
1Department of Biology, University of Padua, Italy.
The American Journal of Cardiology
|November 22, 2012
Summary
Desmin (DES) gene mutations are rarely linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) without skeletal muscle issues. Screening for DES mutations in ARVC patients is generally not recommended unless desminopathy is suspected.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Inherited Heart Diseases
Background:
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition.
- It involves fibrofatty myocardial replacement and ventricular arrhythmias.
- Mutations in desmosomal genes are the primary cause of ARVC.
Purpose of the Study:
- To investigate the role of desmin (DES) gene mutations in ARVC.
- To screen ARVC patients for DES mutations.
- To assess the clinical significance of identified DES variants.
Main Methods:
- Screening of 91 ARVC index cases for DES mutations.
- Analysis of genetic variants, including rare missense substitutions.
- Correlation of genetic findings with clinical phenotypes and control populations.
Main Results:
- Two rare missense DES variants (p.K241E and p.A213V) were identified in ARVC patients.
- The p.K241E variant was found in a severe ARVC case with a concomitant plakophilin-2 mutation, suggesting a potential modifier effect.
- The p.A213V variant was identified in a desmosomal gene-negative ARVC patient, with a possible link to cardiac remodeling.
Conclusions:
- DES mutations are unlikely in ARVC patients lacking skeletal muscle involvement indicative of desminopathy.
- The probability of finding DES mutations in ARVC is very low.
- These findings impact genetic screening strategies for ARVC patients.
Related Concept Videos
01:25Cardiomyopathy 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...
01:29Cardiomyopathy 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...
01:30Cardiomyopathy 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,...
01:29Cardiomyopathy 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...
01:28Mechanism 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.
01:20Mitral Regurgitation I: Introduction
Mitral regurgitation is characterized by the backward circulation of blood from the left ventricle to the left atrium during systole, a phase of the cardiac cycle when the heart contracts and pumps blood out of the chambers. This abnormal flow occurs primarily due to the dysfunction of the mitral valve or its supporting structures, which include the mitral leaflets, chordae tendineae, annulus, and papillary muscles.Etiology and Mechanisms:Primary Mitral Regurgitation: This type arises from...