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

被引：34

作者：

De la Fuente, Sam ^{[1
]}

Van Langen, Irene M. ^{[2
]}

Postma, Alex V. ^{[3
]}

Bikker, Henni ^{[2
]}

Meijer, Albert ^{[1
]}

机构：

[1] Catharina Hosp, Dept Cardiol, NL-5602 ZA Eindhoven, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Expt & Mol Cardiol Grp, NL-1105 AZ Amsterdam, Netherlands

来源：

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY | 2008年 / 31卷 / 07期

关键词：

calsequestrin; 2; catecholaminergic polymorphic ventricular tachycardia; electrophysiology; clinical;

D O I：

10.1111/j.1540-8159.2008.01111.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：916 / 919

页数：4

共 14 条

[1] Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia [J].

di Barletta, Marina Raffaele ;

Viatchenko-Karpinski, Serge ;

Nori, Alessandra ;

Memmi, Mirella ;

Terentyev, Dmitry ;

Turcato, Federica ;

Valle, Giorgia ;

Rizzi, Nicoletta ;

Napolitano, Carlo ;

Gyorke, Sandor ;

Volpe, Pompeo ;

Priori, Silvia G. .

CIRCULATION, 2006, 114 (10) :1012-1019

[2] Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium [J].

Houle, TD ;

Ram, ML ;

Cala, SE .

CARDIOVASCULAR RESEARCH, 2004, 64 (02) :227-233

[3] Diagnosis of unexplained cardiac arrest - Role of adrenaline and procainamide infusion [J].

Krahn, AD ;

Gollob, M ;

Yee, R ;

Gula, LJ ;

Skanes, AC ;

Walker, BD ;

Klein, GJ .

CIRCULATION, 2005, 112 (15) :2228-2234

[4]

Lahat H, 2001, CIRCULATION, V103, P2822

[5] Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms [J].

Laitinen, PJ ;

Swan, H ;

Kontula, K .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (11) :888-891

[6] CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR-TACHYCARDIA IN CHILDREN - A 7-YEAR FOLLOW-UP OF 21 PATIENTS [J].

LEENHARDT, A ;

LUCET, V ;

DENJOY, I ;

GRAU, F ;

DONGOC, D ;

COUMEL, P .

CIRCULATION, 1995, 91 (05) :1512-1519

[7] Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia [J].

Postma, AV ;

Denjoy, I ;

Hoorntje, TM ;

Lupoglazoff, JM ;

Da Costa, A ;

Sebillon, P ;

Mannens, MMAM ;

Wilde, AAM ;

Guicheney, P .

CIRCULATION RESEARCH, 2002, 91 (08) :E21-E26

[8] Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients [J].

Postma, AV ;

Denjoy, I ;

Kamblock, J ;

Alders, M ;

Lupoglazoff, JM ;

Vaksmann, G ;

Dubosq-Bidot, L ;

Sebillon, P ;

Mannens, MMAM ;

Guicheney, P ;

Wilde, AAM .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (11) :863-870

[9] Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia [J].

Priori, SG ;

Napolitano, C ;

Memmi, M ;

Colombi, B ;

Drago, F ;

Gasparini, M ;

DeSimone, L ;

Coltorti, F ;

Bloise, R ;

Keegan, R ;

Cruz, FES ;

Vignati, G ;

Benatar, A ;

DeLogu, A .

CIRCULATION, 2002, 106 (01) :69-74

[10]

Priori SG, 2001, CIRCULATION, V103, P196

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