A Polymorphic MYBPC3 Variant As A Major Risk Factor of Cardiomyopathy in South Asian descendants LUC

We will conduct the analysis of the next generation sequencing data in Aim 2 to evaluate the presence of additional rare and common variants in addition to the MYBPC325 deletion. These studies are designed to evaluate whether additional cardiomyopathic variants contribute to the manifestation of cardiomyopathy and heart failure in gene carriers of MYBPC325. It is estimated that more than 400,000 South Indians live in the Chicago area and that nearly 8% of these individuals are carriers of the MYBPC325 variant. We have experience in whole genome analysis for cardiomyopathy as well as extensive experience derived from genetic testing in cardiomyopathy families.