A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations

Sam De La Fuente, Irene M. Van Langen, Alex V. Postma, Henni Bikker, Albert Meijer

OnderzoeksoutputAcademicpeer review

33 Citaten (Scopus)

Samenvatting

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. (PACE 2008; 31:916-919). © 2008, The Authors. Journal compilation © 2008, Blackwell Publishing, Inc.
Originele taal-2English
Pagina's (van-tot)916-919
Aantal pagina's4
TijdschriftPace-Pacing and Clinical Electrophysiology
Volume31
Nummer van het tijdschrift7
DOI's
StatusPublished - jul-2008

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