Biventricular Arrhythmogenic Cardiomyopathy Associated with a Novel Heterozygous Plakophilin-2 Early Truncating Variant

Abstract

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a hereditary condition that can cause sudden cardiac death in young, frequently athletic individuals under the age of 35 due to malignant arrhythmias. Competitive and endurance exercise may hasten the onset and progression of ARVC, leading to right ventricular dysfunction and potentially fatal ventricular arrhythmias earlier in life. In this article, we present a novel, pathogenic, early truncating heterozygous variant in the PKP2 gene that causes biventricular arrhythmogenic cardiomyopathy and affects a family, of which the only member with the positive phenotype is a competitive endurance athlete.

Keywords: arrhythmogenic cardiomyopathy; exercise; plakophilin-2.

Figure 1

Diagnostic work-up in the index patient. (A). 12-lead electrocardiogram showing sinus rhythm with T wave inversions in V1–V3 (blue box). (B). Recovery phase of bicycle ergometry. Right (red arrow) and left bundle branch block (LBBB) morphology premature ventricular complexes and non-sustained ventricular tachycardia with a LBBB morphology (black arrow) and an inferior axis are shown. (C,D). Transthoracic echocardiogram showing the subtricuspid aneurysm (white asterisk) on the RV inflow view and multiple sacculations of the right ventricular free wall (white arrows). (E). Multislice 4 chamber MRI view showing a subtricuspid aneurysm of the right ventricular free wall (red arrows). (F). Late gadolinium enhancement of the subtricuspid right ventricular wall (yellow arrows, Phase-sensitive inversion recovery (PSIR) short axis view). (G). Late gadolinium enhancement of the lateral wall of the left ventricle (blue asterisk, PSIR 4 chamber view).