Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC) Clinical Presentation

Updated: Dec 29, 2020
  • Author: Gyanendra K Sharma, MD, FACC, FASE; Chief Editor: Jose M Dizon, MD  more...
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Presentation

History

Patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) have a wide range of presentations, ranging from being asymptomatic to biventricular failure and/or sudden cardiac death. In one series from the United States, median age at presentation was 26 years, and median time from symptom onset to diagnosis was one year.

Common symptoms reported in different series [21, 26] include the following:

  • Palpitation (27%-67%)

  • Syncope (26%-32%)

  • Sudden cardiac death (10%-26%)

  • Atypical chest pain (27%)

  • Dyspnea (11%)

Palpitation is the most frequent symptom and is caused by ventricular arrhythmias. Depending on the disease severity, ventricular ectopics may be isolated or may result in nonsustained/sustained ventricular tachycardia, ventricular fibrillation, and sudden cardiac death.

Progressive RV dysfunction results in dyspnea and leg swelling. In more severe cases with left ventricular involvement, patients may present with biventricular congestive heart failure that may mimic dilated cardiomyopathy. Supraventricular arrhythmias, including atrial flutter and fibrillation, may be seen in about 25% of cases. [27]

Exercise can induce ventricular arrhythmias and sudden cardiac death. ARVD accounts for 22% of sudden cardiac death cases among young athletes in northern Italy. [2, 28] In the United States, in a series of 286 cases of sudden cardiac death in athletes, hypertrophic cardiomyopathy was the most common cause, and ARVD was reported in only 4% cases.

Extracardiac manifestations include palmoplantar keratosis and curly hair seen in individuals with autosomal-recessive inheritance.