Related Experiment Video

Updated: Feb 13, 2026

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
09:16

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients

Published on: February 28, 2018

8.1K

Diagnostic Criteria, Genetics, and Molecular Basis of Arrhythmogenic Cardiomyopathy

Cristina Basso1, Kalliopi Pilichou1, Barbara Bauce1

  • 1Department of Cardiac, Thoracic, and Vascular Sciences, University of Padova Medical School, Padova, Italy.

Heart Failure Clinics
|March 12, 2018
PubMed

Insights

Arrhythmogenic cardiomyopathy (AC) is an inherited heart condition. New diagnostic approaches are needed as the left dominant variant of AC is often missed by current criteria.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease.
  • It leads to myocardial atrophy and fibrofatty replacement, increasing sudden cardiac death risk, especially in young individuals and athletes.
  • Current diagnostic criteria for AC combine imaging, ECG, arrhythmias, tissue characterization, and family history due to the lack of a gold standard.

Purpose of the Study:

  • To highlight the challenges in diagnosing arrhythmogenic cardiomyopathy (AC).
  • To emphasize the under-recognition of the left dominant AC variant within existing diagnostic frameworks.
  • To advocate for improved diagnostic strategies that can identify all forms of AC.

Main Methods:

  • Review of current diagnostic criteria for arrhythmogenic cardiomyopathy.
  • Analysis of findings from contrast-enhanced cardiac magnetic resonance (CE-CMR) imaging.
  • Evaluation of the clinical identification of AC variants.

Main Results:

  • Contrast-enhanced cardiac magnetic resonance (CE-CMR) increasingly identifies a left dominant form of AC.
  • This left dominant AC variant is not adequately addressed by current diagnostic criteria.
  • The left dominant AC variant frequently evades clinical identification.

Conclusions:

  • Existing diagnostic criteria for arrhythmogenic cardiomyopathy may not encompass all disease variants.
  • The left dominant AC subtype poses a diagnostic challenge, often being overlooked.
  • Further refinement of diagnostic criteria and imaging techniques is necessary for comprehensive AC detection.

Keywords:
Arrhythmogenic right ventricular cardiomyopathyDesmosomesImplantable cardioverter defibrillatorSudden cardiac death

More Related Videos

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.4K
Preventing the Spread of Malaria and Dengue Fever Using Genetically Modified Mosquitoes17:50

Preventing the Spread of Malaria and Dengue Fever Using Genetically Modified Mosquitoes

Published on: July 4, 2007

13.0K

Related Concept Videos

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,...
591
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...
530
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...
593
Criteria for Causality: Bradford Hill Criteria - II01:28

Criteria for Causality: Bradford Hill Criteria - II

The Bradford Hill criteria serve as guidelines for establishing causative links in epidemiological research. Beyond Strength, Consistency, Specificity, and Temporality, key criteria also include Biological Gradient, Plausibility, Coherence, Experiment, and Analogy. These principles assist scientists in assessing the likelihood of causation in complex biological contexts. Below is a summary of these concepts:
1.3K
Criteria for Causality: Bradford Hill Criteria - I01:30

Criteria for Causality: Bradford Hill Criteria - I

The Bradford Hill criteria are a group of principles that provide a framework to determine a causal relationship between a specific factor and a disease. There are nine criteria that are pivotal in assessing causality in epidemiological studies. Here's a closer look at Strength, Consistency, Specificity, and Temporality criteria with definitions and examples:
1.2K
Genetics of Speciation02:16

Genetics of Speciation

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.9K