A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia

被引：10

作者：

Arakawa, Junko ^{[1
,2
]}

Hamabe, Akira ^{[1
,2
]}

Aiba, Takeshi ^{[3
]}

Nagai, Tomoo ^{[1
,2
]}

Yoshida, Mikoto ^{[1
,2
]}

Touya, Takumi ^{[1
,2
]}

Ishigami, Norio ^{[1
,2
]}

Hisadome, Hideki ^{[2
]}

Katsushika, Shuichi ^{[1
,2
]}

Tabata, Hirotsugu ^{[1
,2
]}

Miyamoto, Yoshihiro ^{[4
]}

Shimizu, Wataru ^{[3
,5
]}

机构：

[1] Japan Self Def Forces Cent Hosp, Dept Cardiol, Setagaya Ku, Tokyo 1548532, Japan

[2] KKR Mishuku Hosp, Dept Cardiol, Tokyo, Japan

[3] Natl Cerebral & Cardiovasc Ctr, Dept Cardiovasc Med, Osaka, Japan

[4] Natl Cerebral & Cardiovasc Ctr, Mol Genet Lab, Osaka, Japan

[5] Nippon Med Sch, Dept Cardiovasc Med, Tokyo 113, Japan

来源：

HEART AND VESSELS | 2015年 / 30卷 / 06期

关键词：

Sudden cardiac death; Catecholaminergic polymorphic ventricular tachycardia; Cardiac ryanodine receptor; AMERICAN-COLLEGE; ARRHYTHMIAS; ABNORMALITIES; ASSOCIATION; VARIABILITY; GUIDELINES; MANAGEMENT;

D O I：

10.1007/s00380-014-0555-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Sudden cardiac death (SCD) in athletes < 35 years of age are mostly due to congenital or acquired cardiac malformations or hypertrophic cardiomyopathy. However, ion channelopathies such as catecholaminergic polymorphic ventricular tachycardia (CPVT) or long-QT syndromes, which are less frequently observed, are also potential pathogenesis of SCD in young athletes. CPVT is an inherited arrhythmia that is induced by physical or emotional stress and may lead to ventricular fibrillation syncope or SCD. Here, we report a case of athlete woman with adult-onset CPVT and aborted SCD who has a novel missense mutation (K4392R) in the cardiac RyR2 gene.

引用

页码：835 / 840

页数：6

共 37 条

[1] A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia
Junko Arakawa
Akira Hamabe
Takeshi Aiba
Tomoo Nagai
Mikoto Yoshida
Takumi Touya
Norio Ishigami
Hideki Hisadome
Shuichi Katsushika
Hirotsugu Tabata
Yoshihiro Miyamoto
Wataru Shimizu
Heart and Vessels, 2015, 30 : 835 - 840
[2] Molecular Changes in the Cardiac RyR2 With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Dulhunty, Angela F.
FRONTIERS IN PHYSIOLOGY, 2022, 13
[3] Sudden death after inappropriate shocks of implantable cardioverter defibrillator in a catecholaminergic polymorphic ventricular tachycardia case with a novel RyR2 mutation
Itoh, Hideki
Murayama, Takashi
Kurebayashi, Nagomi
Ohno, Seiko
Kobayashi, Takuya
Fujii, Yusuke
Watanabe, Masaya
Ogawa, Haruo
Anzai, Toshihisa
Horie, Minoru
JOURNAL OF ELECTROCARDIOLOGY, 2021, 69 : 111 - 118
[4] A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia
Bosch, Cristina
Campuzano, Oscar
Sarquella-Brugada, Georgia
Cesar, Sergi
Perez-Serra, Alexandra
Coll, Monica
Mademont, Irene
Mates, Jesus
del Olmo, Bernat
Iglesias, Anna
Brugada, Josep
Petersen, Volker
Brugada, Ramon
FORENSIC SCIENCE INTERNATIONAL, 2017, 270 : 173 - 177
[5] A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death
Blanco-Verea, Alejandro
Ramos-Luis, Eva
Garcia-Seara, Javier
Carracedo, Angel
Ramon Gonzalez-Juanatey, Jose
Brion, Maria
REVISTA ESPANOLA DE CARDIOLOGIA, 2019, 72 (08): : 681 - 683
[6] A case report of familial catecholaminergic polymorphic ventricular tachycardia with a novel mutation in the ryanodine receptor 2
Shoji, Yoshikuni
Hayashida, Satoshi
Masuda, Hikaru
Tachibana, Eizo
Okumura, Yasuo
EUROPEAN HEART JOURNAL-CASE REPORTS, 2024, 8 (12)
[7] RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review
Abdullah, Nur Mashitah
Ali, Adli
TRANSLATIONAL PEDIATRICS, 2024, 13 (02) : 359 - 369
[8] Cardiac ryanodine receptor gene(hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and cardiac syncope
Ngai-Shing Mok
Ching-Wan Lam
Nai-Chung Fong
Yim-Wo Hui
Yuen-Choi Choi
Kwok-Yin Chan
中华医学杂志(英文版), 2006, (24) : 2129 - 2133
[9] Cardiac ryanodine receptor gene (hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and cardiac syncope
Mok, Ngai-Shing
Lam, Ching-Wan
Fong, Nai-Chung
Hui, Yim-Wo
Choi, Yuen- Choi
Chan, Kwok-Yin
CHINESE MEDICAL JOURNAL, 2006, 119 (24) : 2129 - 2133
[10] A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS
Kauferstein, Silke
Kiehne, Nadine
Erkapic, Damir
Schmidt, Joern
Hamm, Christian W.
Bratzke, Hansjuergen
Pitschner, Heinz-Friedrich
Kuniss, Malte
Neumann, Thomas
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2011, 146 (02) : 249 - 250

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