Related Experiment Video

Updated: Jun 24, 2026

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
07:11

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography

Published on: October 28, 2020

Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic

Darshan Dalal1, Harikrishna Tandri, Daniel P Judge

  • 1Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. ddalal1@jhmi.edu

Journal of the American College of Cardiology
|April 11, 2009
PubMed

Insights

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) primarily affects the right ventricle, with left ventricular (LV) involvement being rare. The "accordion sign" on cardiac MRI shows promise for early ARVD/C diagnosis in mutation carriers.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Desmosomal mutations are linked to arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
  • This suggests potential for equal involvement of the right ventricle (RV) and left ventricle (LV) in ARVD/C pathogenesis.
  • Investigating LV involvement in ARVD/C is crucial for understanding disease progression.

Purpose of the Study:

  • To assess the extent of left ventricular (LV) involvement in individuals at risk for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
  • To identify novel morphologic variants associated with ARVD/C.
  • To correlate genetic findings with cardiac magnetic resonance imaging (CMR) observations.

Main Methods:

  • Genotyping and cardiac magnetic resonance imaging (CMR) were performed on 38 family members of ARVD/C probands.
  • CMR investigators were blinded to clinical and genetic data.
  • Participants were assessed for desmosomal gene mutations (PKP2, DSP, DSG2).

Main Results:

  • RV abnormalities were associated with mutation presence and ARVD/C disease severity.
  • Intramyocardial fat was the only LV abnormality detected, present in 4 mutation carriers.
  • The "accordion sign" (RV outflow tract "crinkling") was observed in 60% of mutation carriers versus 0% of non-carriers (p < 0.001).

Conclusions:

  • Left ventricular (LV) structure and function are generally preserved in ARVD/C, with independent LV involvement being uncommon.
  • The "accordion sign" is a potential early diagnostic marker for ARVD/C in mutation carriers.
  • Further validation in larger populations is recommended to confirm the diagnostic utility of the "accordion sign".
Abstract

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

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

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 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...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...