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Glob Cardiol Sci Pract. 2013 Nov 1;2013(3):261-8. doi: 10.5339/gcsp.2013.33. eCollection 2013.

Syncope and recurrent ventricular tachycardia with a newly identified desmosomal gene mutation.

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Frederik Meijer Heart & Vascular Institute, Michigan, USA.


Ventricular arrhythmias in young people most commonly occur due to the presence of hypertrophic cardiomyopathy, long QT syndrome or Wolff-Parkinson-White syndrome. We present a case in which the patient had exercise induced syncopal spells and was found to have ventricular tachycardia (VT) during both exercise stress testing and an electrophysiology study. Further genetic studies showed a previously unseen desmosomal gene mutation confirming the presence of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).

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