South Asian Arrhythmogenic Cardiomyopathy Registry

Summary

Arrhythmogenic Cardiomyopathy (ACM) is increasingly identified as an important cause of cardiac morbidity and mortality, especially of SCD, in a younger population.

Although there are no epidemiological data available, the investigators' experience is that in the North Indian region, ACM is rare outside our regions. ACM is also an understudied cardiac disorder in the South-Asian region.

An ethnic nonmigratory population inhabits the two regions, and consanguineous marriages are common. Based on these observations, the investigators firmly believe that there may be a founder gene in our populations responsible for the increased incidence of ACM.

Our project includes a thorough phenotypic analysis ((ECG, Holter, and echocardiography) in the ACM patients and their first-degree relatives; cardiac MRI and high resolution endocardial bipolar and unipolar voltage mapping (using HD grid catheter) in the patients.

The patient provided blood for the extraction of DNA will first undergo target panel sequencing for 20 known classic right-dominant ACM and left-dominant ACM. If this is negative for known pathogenic and likely pathogenic variants but identified novel variants of uncertain significance (VUS), then co-segregation analysis in family members will be performed. This technique can provide helpful information to reclassify VUSs. If both these are negative, then whole-exome 'trio' analysis will be performed, whch includes the proband and two family members, to triangulate from all 20,000 genes to a list of candidates for further interrogation.

The investigators wish to provide comprehensive answers to the research question by combining the genetic analysis with phenotypic evaluation.

Conditions

• Arrhythmogenic Right Ventricular Cardiomyopathy
• Arrhythmogenic Right Ventricular Dysplasia
• Arrhythmogenic Ventricular Cardiomyopathy
• Arrhythmogenic Cardiomyopathy
• Ventricular Tachycardia
• Sudden Cardiac Death

Interventions

DIAGNOSTIC_TEST

ECG

All study subjects will undergo ECG recording.

DIAGNOSTIC_TEST

Echocardiography

All study subjects will undergo transthoracic echocardiography

DIAGNOSTIC_TEST

Cardiac MRI

All ACM patients and SCD survivors will undergo cardiac MRI testing.

DIAGNOSTIC_TEST

Ambulatory ECG recording

All ACM patients and SCD survivors will undergo 24-hour ambulatory ECG recording

DIAGNOSTIC_TEST

Cardiac EP study

ACM patients and SCD survivors will undergo diagnostic cardiac Electrophysiology testing.

GENETIC

All study subjects will undergo sample collection for genetic testing.

Blood samples and buccal swab will be collected from study subjects for genetic testing.

Sponsors & Collaborators

• Indian Heart Rhythm Society

  collaborator UNKNOWN

• Sri Jayadeva Institute of Cardiovascular Sciences and Research

  collaborator OTHER

• University of Pennsylvania

  collaborator OTHER

• Sheri Kashmir Institute of Medical Sciences

  lead OTHER

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-04-10

Primary Completion

2022-05-01

Completion

2022-05-01

Countries

• United States
• India

Study Locations