Contributor: Chris Sobowale

Natural history is catching up when arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients develop heart failure.

ARVC/D is an inherited cardiomyopathy in which myocardium is replaced with fibro-fatty tissue.  This is followed by development of right ventricular dysfunction and ventricular arrhythmia.

Why are heart failure specialists seeing more patients with ARVC/D? The patients are living longer. Increased awareness allows timely diagnosis. ICD implantation prevents sudden cardiac death. As a result, ARVC/D patients eventually develop heart failure. Gilotra et al explores the increased prevalence of HF related to ARVC/D and characterizes the evolution to HF.

Study participants were selected from the Johns Hopkins ARVC/D Program Registry and were included if they 1) met the 2010 Revised Task Force Criteria for ARVC/D, 2) had undergone screening for desmosomal mutations, and 3) had both clinical assessment for HF and evaluation of cardiac structure and function within two years.

At least one HF sign and/or symptom was present in 49% of the ARVC/D cohort – increased compared to 4-11% in previous reports. More appropriate diagnosis through use of the 2010 task force criteria and utilization of genetic testing may contribute to this increase. Isolated RV failure was the most common HF presentation.  The most common symptoms were dyspnea on exertion (78%) and fatigue (73%). A smaller number of patients had evidence of volume overload, defined as evidence of edema or ascites (40%). Left-sided congestive symptoms including orthopnea (9%), paroxysmal nocturnal dyspnea (6%), and pulmonary rales (2%) were rare.

Let’s talk limitations. This study is based on a single center registry reporting retrospective patient-reported symptoms.  HF designation in this study differs from the Framingham definition. However, as shown in this study, Framingham criteria are often absent in ARVC/D patients. Worth mentioning: if the study alternatively required two or more signs and/or symptoms of HF, the HF prevalence would be 30%, still higher than previously reported.

In a heartbeat… Heart failure is more common in ARVC/D patients than previously reported and, not surprisingly, may present subtly with right-sided heart failure symptoms.

Study Link: Heart Failure Is Common and Under-Recognized in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia