title: Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and cathecholaminergic polymorphic ventricular tachycardia (CPVT): A phenotypic spectrum seen in same patient.
abstract: 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.
authors.affiliation: Division of Cardiology, Department of Medicine, Saint Michael's Medical Center, New York Medical College, Newark, NJ, United States. Electronic address: hiten0409@yahoo.com.
authors.forename: Hiten
authors.initials: H
authors.lastname: Patel
authors.affiliation: Division of Cardiology, Department of Medicine, Saint Joseph Regional Medical Center, New York Medical College, Patterson, NJ, United States.
authors.forename: Priyank
authors.initials: P
authors.lastname: Shah
authors.affiliation: Division of Cardiology, Department of Medicine, Saint Michael's Medical Center, New York Medical College, Newark, NJ, United States.
authors.forename: Upamanyu
authors.initials: U
authors.lastname: Rampal
authors.affiliation: Division of Cardiology, Department of Medicine, Saint Michael's Medical Center, New York Medical College, Newark, NJ, United States.
authors.forename: Fayez
authors.initials: F
authors.lastname: Shamoon
authors.affiliation: Division of Cardiology, Department of Medicine, Saint Joseph Regional Medical Center, New York Medical College, Patterson, NJ, United States.
authors.forename: Satish
authors.initials: S
authors.lastname: Tiyyagura
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D016757:Death, Sudden, Cardiac / Q000517:prevention & control; D003937:Diagnosis, Differential; D004562:Electrocardiography / Q000379:methods*; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017180:Tachycardia, Ventricular / Q000150:complications* / Q000235:genetics / Q000628:therapy; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
keywords: Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); Cathecholaminergic polymorphic ventricular tachycardia (CPVT); Phenotypic spectrum; Sudden cardiac death syndromes