Related Experiment Video

Updated: Dec 25, 2025

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
09:36

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

Published on: December 22, 2023

1.6K

Natural History of Arrhythmogenic Cardiomyopathy

Giulia Mattesi1, Alessandro Zorzi1, Domenico Corrado1

  • 1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padua, Italy.

Journal of Clinical Medicine
|March 27, 2020
PubMed

Insights

Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease causing arrhythmias and sudden death, often linked to genetic factors. This review explores AC

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Arrhythmogenic cardiomyopathy (AC) is a myocardial disease leading to ventricular arrhythmias (VAs) and sudden cardiac death (SCD), particularly in young athletes.
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a well-defined AC variant, but broader "arrhythmogenic cardiomyopathy" encompasses genetic and non-genetic causes and diverse phenotypes.
  • AC involves myocardial scarring, with genetic roots in cardiac desmosome genes, but non-desmosomal and non-genetic factors also contribute, sometimes mimicking other heart conditions.

Purpose of the Study:

  • To review the genetic underpinnings of arrhythmogenic cardiomyopathy (AC).
  • To delineate the clinical course and natural history of AC.
  • To describe the diverse phenotypic expressions of AC.

Main Methods:

  • Literature review of studies on arrhythmogenic cardiomyopathy (AC).
  • Analysis of genetic mutations associated with AC.
  • Examination of clinical data and pathological findings in AC patients.

Main Results:

  • AC is characterized by ventricular scarring and a propensity for VAs and SCD.
  • Genetic mutations, primarily in desmosomal genes, are key, but non-genetic factors also play a role.
  • Disease progression involves deterioration of cardiac function, with age-related variations in arrhythmic events like ventricular fibrillation, SCD, and ventricular tachycardia.

Conclusions:

  • Arrhythmogenic cardiomyopathy (AC) presents a spectrum of genetic and phenotypic variations.
  • Understanding the genetic basis, clinical progression, and varied presentations is crucial for managing AC.
  • The review highlights the complexity of AC, including its genetic etiology, clinical trajectory, and diverse phenotypes.

Keywords:
arrhythmogenic cardiomyopathysudden cardiac death

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.1K
Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

17.7K

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...
415
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...
289
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.
1.5K
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...
370
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,...
350
Electrophysiology of Normal Cardiac Rhythm01:19

Electrophysiology of Normal Cardiac Rhythm

The normal cardiac rhythm is a synchronized electrical activity that facilitates the regular and coordinated contraction of the heart muscle. This process is essential for efficient blood circulation throughout the body. The fundamental elements involved in establishing and maintaining this rhythm include the unique electrical properties of cardiac muscle cells, the sinoatrial (SA) node's pacemaker function, the specialized conducting system, and the ionic mechanisms underlying each phase...
8.5K