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

doi:10.1111/j.1540-8159.2008.01111.x

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

Research output: Contribution to journal › Article › Academic › peer-review

36 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	916-919
Number of pages	4
Journal	Pace-Pacing and Clinical Electrophysiology
Volume	31
Issue number	7
DOIs	https://doi.org/10.1111/j.1540-8159.2008.01111.x
Publication status	Published - Jul-2008

Keywords

Calsequestrin 2
Catecholaminergic polymorphic ventricular tachycardia
Clinical
Electrophysiology
ryanodine receptor 2
adult
anamnesis
article
calsequestrin 2 gene
case report
catecholaminergic polymorphic ventricular tachycardia
clinical feature
gene
gene mutation
genetic analysis
heart rate
human
inheritance
male
faintness

Access to Document

10.1111/j.1540-8159.2008.01111.x

Handle.net

Persistent link

Cite this

@article{f3fe8624a847490983c10ce33a3503c4,

title = "A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations",

abstract = "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). {\textcopyright} 2008, The Authors. Journal compilation {\textcopyright} 2008, Blackwell Publishing, Inc.",

keywords = "Calsequestrin 2, Catecholaminergic polymorphic ventricular tachycardia, Clinical, Electrophysiology, ryanodine receptor 2, adult, anamnesis, article, calsequestrin 2 gene, case report, catecholaminergic polymorphic ventricular tachycardia, clinical feature, gene, gene mutation, genetic analysis, heart rate, human, inheritance, male, faintness",

author = "{De La Fuente}, Sam and {Van Langen}, {Irene M.} and Postma, {Alex V.} and Henni Bikker and Albert Meijer",

year = "2008",

month = jul,

doi = "10.1111/j.1540-8159.2008.01111.x",

language = "English",

volume = "31",

pages = "916--919",

journal = "Pace-Pacing and Clinical Electrophysiology",

issn = "0147-8389",

publisher = "Wiley",

number = "7",

}

TY - JOUR

T1 - A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations

AU - De La Fuente, Sam

AU - Van Langen, Irene M.

AU - Postma, Alex V.

AU - Bikker, Henni

AU - Meijer, Albert

PY - 2008/7

Y1 - 2008/7

N2 - 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.

AB - 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.

KW - Calsequestrin 2

KW - Catecholaminergic polymorphic ventricular tachycardia

KW - Clinical

KW - Electrophysiology

KW - ryanodine receptor 2

KW - adult

KW - anamnesis

KW - article

KW - calsequestrin 2 gene

KW - case report

KW - catecholaminergic polymorphic ventricular tachycardia

KW - clinical feature

KW - gene

KW - gene mutation

KW - genetic analysis

KW - heart rate

KW - human

KW - inheritance

KW - male

KW - faintness

U2 - 10.1111/j.1540-8159.2008.01111.x

DO - 10.1111/j.1540-8159.2008.01111.x

M3 - Article

SN - 0147-8389

VL - 31

SP - 916

EP - 919

JO - Pace-Pacing and Clinical Electrophysiology

JF - Pace-Pacing and Clinical Electrophysiology

IS - 7

ER -