Varied Presentation of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Case Series

Abstract

Arrhythmogenic right ventricular dysplasia (ARVD) is a genetically predisposed form of cardiomyopathy that mainly affects young individuals resulting in fatal ventricular arrhythmias leading to sudden cardiac death. ARVD has 50% of cases that involve both the right ventricle (RV) and left ventricle (LV), but only a small number of cases involve an isolated left ventricle. In this case series, five patients (four males and one female) with a diagnosis of ARVD presented to our center with varied clinical presentations across a wide range of age groups. The MRI of all five cases showed dilated right atrium (RA)/RV with right ventricular free wall dyskinesia. Two-dimensional (2D) MRI showed aneurysmal outpouching with diffuse free wall enhancement. Automated implantable cardioverter defibrillator (AICD) was implanted uneventfully in all five patients, and the patients were discharged with oral medications such as low-dose diuretics, beta-blockers, spironolactone, angiotensin-converting enzymes (ACE) inhibitors, amiodarone, and anxiolytics. Until now, the patients were doing well on follow-up visits. The therapeutic management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) has evolved over the years and continues to be an important challenge. To further improve risk stratification and treatment of patients, more information is needed on natural history, long-term prognosis, and risk assessment. Special attention should be focused on the identification of patients who would benefit from implantable cardioverter-defibrillator (ICD) implantation in comparison to pharmacological and other nonpharmacological approaches.

Keywords: arvd; cardiomyopathy; right bundle branch block; right ventricle; ventricular tachycardia.

Figure 1. ECG and MRI findings of case 1.

(a) ECG showed sustained ventricular tachycardia and left bundle branch morphology with the superior axis. (b) MRI showed dilated RA/RV free wall dyskinesia with diffuse free wall enhancement on gadolinium contrasts. RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle

Figure 2. ECG, 2D ECHO, and MRI findings of case 2.

(a) ECG showed frequent ventricular ectopy with incomplete RBBB morphology. (b) 2D ECHO showed the dilation of RA/RV with decreased right ventricular function. (c) MRI showed dilated RA/RV with right ventricular free wall dyskinesia. (d) MRI showed aneurysmal outpouching with diffuse free wall enhancement. 2D ECHO, two-dimensional echocardiography; RBBB, right bundle branch block; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle

Figure 3. ECG, 2D ECHO, and MRI findings of case 3.

(a) ECG showed frequent VPC with bigeminy, couplets, and T wave inversion in lead V1-V3 without RBBB. (b) 2D ECHO showed enlarged RA/RV with mild low-pressure tricuspid regurgitation. (c) MRI showed dilated right ventricle with RV dyskinesia/desynchrony. (d) MRI showed low-pressure tricuspid regurgitations. 2D ECHO, two-dimensional echocardiography; VPC, ventricular premature contraction; RBBB, right bundle branch block; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle; MB, mitral bulge

Figure 4. ECG, 2D ECHO, and MRI findings of case 4.

(a) ECG showed ventricular tachycardia with LBBB and superior axis. (b) ECG showed the presence of T wave inversions in lead V1-V3 in the absence of complete RBBB and frequent premature ventricular rhythms. (c) 2D ECHO dilated RA and RV with normal right ventricular functions and moderate tricuspid regurgitation. (d) MRI showed outpouching of apical right ventricles with thinned right ventricle free wall and increased intensity of right ventricular free wall globally. 2D ECHO, two-dimensional echocardiography; LBBB, left bundle branch block; RBBB, right bundle branch block; RVOT, right ventricle outflow tract; RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle

Figure 5. MRI showed grossly deranged right ventricular function with outpouching and thinned out apical segment with late gadolinium enhancement of right ventricular free wall.

RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle