Studying Protein Distribution in Cheek Cell Samples to Diagnose Heritable Arrhythmic Heart Disorders and Identify Family Members at Risk

What this Trial Is About

Researchers are investigating the use of buccal smear samples to identify individuals at risk of sudden cardiac death SCD due to heritable arrhythmic disorders. These disorders affect the distribution of proteins at the junctions where heart cells connect, influencing mechanical and electrical coupling. The study focuses on conditions such as arrhythmogenic cardiomyopathy, hypertrophic and dilated cardiomyopathy, cardiac sarcoidosis, and cardiac channelopathies like Long QT syndrome and Brugada syndrome. The goal is to improve diagnosis and risk assessment without the need for invasive heart biopsies. Participants include patients diagnosed with these heritable arrhythmic disorders and family members of SCD victims. The main procedure involves collecting cells from the inside of the cheek using a soft brush to create a buccal smear. This painless and quick process is done during regular cardiology clinic visits. Most participants will provide a single sample, but some may be asked to provide additional samples during follow-up visits, especially if there are changes in their condition or treatment. During the study, participants will have their cheek cells analyzed for protein distribution related to their heart condition. Samples may be collected every six months for ongoing monitoring. Researchers will also study correlations between protein distribution, genetic information, and treatments. The study involves no risks or discomfort, and participation includes a signed consent form. The results aim to support better diagnosis, management, and prevention of life-threatening arrhythmias over the study period.

Distribution of Cell-cell Junction Proteins in Arrhythmic Disorders