Reports

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

In a study published in European Heart Journal, Dr. Robert Hamilton led the discovery of a new way to diagnose Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a life-threatening hereditary heart condition. ARVC genes share a common thread: they make the links called desmosomes that hold muscle cells together. Dr. Hamilton recognized that desmosomes perform a similar role in the skin, where blistering diseases can be caused by either mutations of or antibiodies to these structures. A search for such antibodies in ARVC found that, regardless of the specific genes involved, anti-DSG2 (anti-Desmoglein-2) antibody is observed in every patient with ARVC.

This anti-DSG2 antibody can be identified in a routine blood test and is the first autoantibody linked to ARVC. The blood test is simpler, more sensitive and far less expensive than annual heart tests. Anti-DSG2 is specific for ARVC, and its level may be linked to the severity of disease as well. The next step is to transform this finding into a clinical test available to clinicians around the world. The identification of autoimmunity in ARVC may also lead to new therapies.

This research was supported by the Labatt Family Heart Centre, the Canadian Institutes of Health Research (CIHR) and the SickKids Foundation through donations from the Caitlin Morris Memorial Fund, Alex Corrance Memorial Fund, Carter Family Heart Rhythm Fellowship and Meredith Cartwright, LLB.

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Patient - Doctor Discussion Guide

This guide is not for direct distribution to patients and is intended to support healthcare professional and patient discussion on atrial fibrillation (AF).

It will take about ten minutes and will help you make the most of the consultation time.

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