Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization and Demographics of the Disease




Richard T. and and Angela Clark President's Distinguished Professor

Project Summary

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited progressive heart disease that is characterized by significant replacement of normal right ventricular (RV) myocardium tissue with fibrous connective tissue. This process results in inhomogeneous electrical conduction and slow/discontinuous propagation, leading to the development of dangerous heart rhythms known as ventricular arrhythmias.

In the modern day, catheter mapping/ablation therapy is the primary curative approach to localize the associated abnormalities for ventricular tachycardia (VT) and to target the triggering area of tissue with radiofrequency ablation energy to prevent the abnormal signals from moving through the heart. As a premier center for electrophysiology research and clinical care, the University of Pennsylvania Health System (UPHS) is at the forefront for electrophysiology research and a hub for catheter-based ablation therapies, allowing us access to a large number of patients with ARVC seeking ablation procedures.

Over this summer, I’ve worked as a research intern as part of PURM in the Penn Translational Cardiac Electrophysiology Lab under the guidance of Dr. Cory Tschabrunn. My primary project was to compile and organize the extensive patient health data of patients with ARVC in order to better understand the characteristics of disease and the underlying pathophysiologic arrhythmogenic substrate involved. To this end, I generated and populated a comprehensive database of patients with ARVC managed within UPHS. The patient population consisted of 107 patients who met the task force criteria for ARVC (78 men, mean age at onset of symptoms, 54.4 ± 16.2 years) from electronic medical records of Penn’s EPIC clinical system, PennChart.

Research Electronic Data Capture (REDcap), a browser-based, metadata-driven electronic data capture system developed by Vanderbilt University, was utilized for data acquisition and analysis of patient EMR from PennChart. In general, the patient population’s demographics and clinical manifestations resembled previous reports on ARVC (Tschabrunn et al., 2017; Hulot et al., 2004). Importantly, the data reinforced the effectiveness of ablation approaches for treating the clinical manifestations of ARVC, as the VT inducibility was significantly reduced following ablations. This REDcap database of patients with ARVC will serve to identify risk factors for cardiovascular mortality, while providing a focus on electroanatomical mapping data from mapping/ablation procedures.

Aside from my primary focus on the ARVC database project, I also observed and participated in numerous large animal procedures, such as percutaneous vascular access, myocardial infarction creation, intracardiac catheter placement, and electroanatomic mapping as part of the lab’s study on the mechanisms of cardiac arrhythmias. Cumulatively, my experiences participating in the large animal experiments and clinical research have broadened my horizons with interventional cardiology and translational electrophysiology. Future work will entail compiling more information related to echocardiogram imaging and cardiac magnetic resonance imaging into the REDcap database and following with more comprehensive statistical analyses, all of which I am eager to do in order to improve our understanding of this unique disease.