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Arrhythmogenic Right Ventricular Dysplasia

stethoscopePhysicians who treat this condition:

Find out more about the ARVD/C Program at the Johns Hopkins Heart and Vascular Institute.

Arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) is a rare familial disorder that is an important cause of ventricular tachycardia and sudden cardiac death in young apparently healthy individuals. The clinical hallmark of the disease are ventricular arrhythmias, arising predominantly form the right ventricle. The pathological hallmark of the disease is fibrofatty replacement of right ventricular myocardium. Recent research efforts have revealed that ARVD/C is caused by mutations in genes which encode desmosomal proteins. These proteins are involved with cell to cell adhesion. This important observation helps explain why ARVD/C is more common in athletes, and the delayed onset of the disease. ARVD/C generally presents clinically after puberty and before the age of 50 years. Diagnosis of ARVD/C is challenging and requires that a number of cardiac tests be performed. Once diagnosed, placement of an implantable defibrillator is recommended for many patients for prevention of sudden death. Antiarrhythmic drug therapy and catheter ablation also play important roles in treatment. Genetic testing is playing an increasingly important role in evaluating patients with suspected ARVD/C and guiding therapy.

The Johns Hopkins ARVD/C program  was established in the late 1990's with a goal of furthering research in this rare disease, improving patient care, and increasing the awareness of ARVD. Patients referred to the Johns Hopkins ARVD/C program are evaluated and cared for by a team of highly experienced cardiologists and genetic counselors to guide their care. Johns Hopkins offers comprehensive diagnostic evaluation and care of patients with ARVD/C and their family members.

 

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