Journal
JOURNAL OF ELECTROCARDIOLOGY
Volume 48, Issue 5, Pages 874-878Publisher
CHURCHILL LIVINGSTONE INC MEDICAL PUBLISHERS
DOI: 10.1016/j.jelectrocard.2015.06.005
Keywords
Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); Cathecholaminergic polymorphic ventricular tachycardia (CPVT); Sudden cardiac death syndromes; Phenotypic spectrum
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ARVD/C and CPVT are rare inheritable sudden cardiac death syndromes predominantly expressed in younger individuals. ARVD/C is characterized by a progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia while CPVT is characterized by exercise induced bidirectional/polymorphic ventricular tachycardia (VT) and a structurally normal heart. A mutation in different genes causes these syndromes but recently, mutation in a common gene RYR2 has been associated with both disorders and it has been suggested that CPVT and ARVD/C represent a phenotypic spectrum. We present a case unique in expressing both these phenotypes. (C) 2015 Elsevier Inc. All rights reserved.
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