Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol.

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a relatively newly recognized disease. A clinical profile of patients with this condition was first published in 1982.1 In that report, it was observed that the majority of patients were male. Patients presented with ventricular tachycardia of left bundle-branch block morphology. An enlarged right ventricle due to fibrofatty infiltration of the right ventricular free wall and a familial association were noted. It was considered to be a rare disease of unknown cause. Since then, it has been diagnosed with increasing frequency and has been reported to account for 3% to 5% of unexplained sudden cardiac death under the age of 65 years.2,3 Evidence of the disease is found in 30% to 50% of family members who are studied by noninvasive tests, including ECG, echocardiography, and signal-averaged ECG.4,5 It has been suggested that MRI may also be used for diagnostic purposes, but this remains controversial.6,7 Six genetic loci have been reported to be associated with ARVD/C, and 3 genes have been identified: ryanodine receptor (RyR2),8 plakoglobin (JUP),9and desmoplakin (DSM).10 There is autosomal dominant transmission with all the genetic forms except Naxos disease8 and Carvahal syndrome,11 both of which have autosomal recessive transmission. These 2 autosomal recessive disorders are variants of ARVD/C that are associated with skin and hair abnormalities. The cardiac presentation in Carvahal syndrome is that of a left ventricular cardiomyopathy and arrhythmias. With the recognition that ARVD/C is frequently familial and can cause arrhythmic death, the clinical challenge is how to definitively identify individuals with ARVD/C who have mild or minimal structural abnormalities of the right ventricle. Definite identification of minimal structural abnormalities of the right ventricle can be difficult because of the irregular shape and asymmetrical contractile pattern …