Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited heart muscle disease characterized by ventricular tachyarrhythmia, predominant right ventricular dysfunction, and sudden cardiac death. Its pathophysiology involves close interaction between genetic mutations and exposure to physical activity. Mutations in genes encoding desmosomal protein are the most common genetic basis. Genetic testing plays important roles in diagnosis and screening of family members. Syncope, palpitation, and lightheadedness are the most common symptoms. The 2010 Task Force Criteria is the standard for diagnosis today. Implantation of a defibrillator in high-risk patients is the only therapy that provides adequate protection against sudden death. Selection of patients who are best candidates for defibrillator implantation is challenging. Exercise restriction is critical in affected individuals and at-risk family members. Antiarrhythmic drugs and ventricular tachycardia ablation are valuable but palliative components of the management. This review focuses on the current diagnostic and therapeutic strategies in ARVD/C and outlines the future area of development in this field.

Figure 1

Ventricular tachycardia on a 12-lead electrocardiogram, which occurred in an ARVD/C patients. The VT morphology is left bundle branch block, superior axis. ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy; VT, ventricular tachycardia.

Figure 2

Typical 12-lead electrocardiogram from an ARVD/C patient. T wave inversion is present in lead V1–V3. ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Figure 3

(A) Classic appearance of ARVD/C: systolic dyskinetic bulging in the inferior wall (arrow); (B) Tethering of the anterior wall (arrow) in a 55-year-old man without evidence of ARVD/C. ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Figure 4

A flow chart of risk stratification and indications to ICD implantation in ARVD/C. From Corrado et al. ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy; ICD, implantable cardioverter-defibrillator; LV, left ventricle; RV, right ventricle; SCD, sudden cardiac death; VF, ventricular fibrillation; VT, ventricular tachycardia.

Figure 5

Likelihood of ARVD/C diagnosis is associated with exercise history. Likelihood of meeting diagnostic criteria at last follow-up is associated with increasing hours per year of exercise (P < 0.001) and participation in endurance athletics (P < 0.001). TFC = 2010 Task Force Criteria. From James et al. ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy; TFC, Task Force Criteria. Reprinted with permission.