GENETICS MECHANISMS AND CLINICAL PHENOTYPES OF ARRHYTHMOGENIC CARDIOMYOPATHY

Study Overview

The well-established, consistent and precise phenotyping developed in the previous ARVC Registry (and published as the Modified Task Force Criteria), with a comprehensive primary genotyping approach, search for genetic modifiers, and biomarker analysis will fulfill the long-term goals of this proposal to identify the genetic basis of all forms of AVCs (ARVC, ALVC, and aDCM), establish detailed mechanistic and diagnostic understanding, and correlate these findings with clinical phenotypes to improve risk-stratification and better predict adverse events We will test the general hypothesis that mutations in genes encoding final common pathway proteins of the desmosome/cell-cell junction pathway (or its binding partners), lead to disruption of the intercalated disk (IC) and inflammation, causing the clinic-pathologic features of ARVC, ALVC, and aDCM.18,52-55.

• Study Identifier: 820765