IPRD funded research by Stephen Chelko
Arrhythmogenic Cardiomyopathy (ACM) is a rare, inherited heart disease with a high risk of sudden cardiac death (SCD) in the pediatric population, and accounts for >20% of SCDs worldwide, annually. ACM disease progression worsens in an age-dependent manner, and is characterized by ventricular dysfunction, arrhythmias, and myocardial inflammation/fibrosis. ACM is considered “a disease of the cardiac desmosome,” as >60% of ACM cases arise from desmosomal gene variants (DSC2, DSG2, PKP2, JUP, DSP). Incomplete penetrance and variable expressivity complicate disease progression, as environmental factors (e.g., exercise, diet, and stress) are known contributors of disease onset and progression. The goal of this research project is to examine the efficacy of PF1355, an inhibitor of the enzyme myeloperoxidase, on the prevention of ACM disease onset and progression.
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