South Asian Arrhythmogenic Cardiomyopathy Registry

Status unconfirmed

Conditions studied: Arrhythmogenic Right Ventricular Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Ventricular Cardiomyopathy, Arrhythmogenic Cardiomyopathy, Ventricular Tachycardia, Sudden Cardiac Death

In brief

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.

Key facts

Study ID
NCT04895540
Run by
Sheri Kashmir Institute of Medical Sciences
People needed
100
Starts
2021-04-10
Expected to finish
2022-05-01
Last updated by the study team
2021-06-02

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

You may not qualify if…

Where it is running

Full record on ClinicalTrials.gov

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