Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and cathecholaminergic polymorphic ventricular tachycardia (CPVT): A phenotypic spectrum seen in same patient

•ARVD/C and CPVT, rare inheritable sudden cardiac death syndromes, result from mutation in different genes but recently, mutation in a common gene RYR2 has been associated with both disorder.•It has even been suggested that CPVT and ARVD/C represent a phenotypic spectrum.•Our patient is unique in expressing both the phenotypes of ARVD/C and CPVT in the absence of RYR2 gene mutation or other gene mutations known to cause CPVT and ARVD/C; possibly our patient has novel disease causing mutation that has yet been unidentified•Our patient had sudden cardiac death and required an ICD regardless of the etiology as there was no reversible cause found. The discovery of CPVT gave more importance to beta-blocker up-titration and the addition of flecainide•Hence, it is important to actively monitor the phenotype in patients with inheritable sudden cardiac death syndromes as it has an implication on their management and also in screening their relatives

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.