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A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations
Author(s) -
DE LA FUENTE SAM,
VAN LANGEN IRENE M.,
POSTMA ALEX V.,
BIKKER HENNI,
MEIJER ALBERT
Publication year - 2008
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2008.01111.x
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , calsequestrin , medicine , ryanodine receptor 2 , cardiology , ryanodine receptor , ventricular tachycardia , sudden cardiac death , calcium
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon heritable disease presenting with syncope or sudden cardiac death. Two genes involved in calcium homeostasis, the ryanodine receptor gene and the calsequestrin 2 (CASQ2) gene, have been implicated in this disease. We describe a young man presenting with exercise‐induced syncope, clinically diagnosed as CPVT. Genetic analysis revealed two mutations, p.Y55C (c.164A>G) and p.P308L (c.923C>T), in the CASQ2 gene. Subsequent familial analysis indicates a compound heterozygous form of inheritance .