Recurrent syncope: A late presentation of a genetic cardiac disease.

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Conference Proceeding

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Publication Title

J Am Coll Cardiol


Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare but serious cause of sudden cardiac death (SCD) in young patients. We present an unusual case of late presenting ARVC. Case A 72 year old male with history of frequent syncopal episodes presented with chest pain and lightheadedness. He was found to have sustained monomorphic ventricular tachycardia (VT). Further evaluation showed mild left ventricular dysfunction and nonobstructive coronary disease (image). Cardiac MR showed a dilated right ventricle (RV) and focal area of basal RV dyskinesis. An electrophysiology study demonstrated easily inducible VT. He was started on sotalol therapy and subsequently had a dual chamber implantable cardioverter defibrillator placed for secondary prevention. Decision-making Cardiac MR was suggestive of ARVC (image), however sarcoidosis was a possible alternative diagnosis given his advanced age. CT chest was negative for mediastinal lymphadenopathy. Genetic testing revealed a heterozygous gene mutation in desmoplakin (DSP) gene. His genetic defect is autosomal dominant with latent phenotype or haploinsufficiency phenotype which may explain his late presentation. Conclusion ARVC is an uncommon inherited cardiac disorder that is difficult to identify and is associated with high risk arrhythmia and SCD. A high degree of suspicion is needed to suspect the diagnosis, and early recognition can lead to appropriate lifesaving treatment even in late presenting scenarios.





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