NIH R01 · 2024
Desmoplakinopathies: Integrated Pathophysiology and Therapeutics
PROJECT SUMMARY Arrhythmogenic Cardiomyopathy (ACM) is a heritable disease that bridges the gap between the cardiomyopathies and the inherited arrhythmia syndromes. In its early “concealed” phase, ACM promotes the incidence of ventricular arrhythmias in the absence of overt structural or mechanical remodeling. As the disease progresses, myocyte loss, inflammation, and fibrofatty infiltration emerge, culminating in biventricular failure and further risk of sudden cardiac death (SCD). The pathophysiological significance of the disease is underscored by the fact that ACM is a leading cause of SCD in young individuals < 35 years of age. Mutations in desmosomal proteins account for the majority…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.