Recurrent syncope related to catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2-R2401H mutation
10.3760/cma.j.issn.0253-3758.2017.01.008
- VernacularTitle: 兰尼碱受体2新生基因突变R2401H致反复晕厥相关儿茶酚胺敏感性室性心动过速
- Author:
Xin LIU
1
;
Juxiang LI
;
Jinzhu HU
;
Yang SHEN
;
Rong WAN
;
Qinmei XIONG
;
Qiongqiong ZHOU
;
Jinyan XIE
;
Jiejing JIN
;
Xia YAN
;
Jianhua YU
;
Kui HONG
Author Information
1. Department of Cardiology, Second Affiliated Hospital of Nanchang University, Nanchang 330006, China
- Publication Type:Clinical Trail
- Keywords:
Tachycardia, ventricular;
Syncope;
Mutation;
RyR2
- From:
Chinese Journal of Cardiology
2017;45(1):39-43
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical and molecular genetic features of a Chinese patient with catecholaminergic polymorphic ventricular tachycardia (CPVT).
Methods:Clinical data including resting electrocardiography, echocardiography and treadmill exercise testing of a patient with CPVT admitted to our department in March 2013 were analyzed, and the peripheral venous blood samples of the patient and his family members and 400 ethnicity-matched healthy controls were obtained. All exons and exon-intron boundaries of the six CPVT-related genes including RYR2, CASQ2, TRDN, CALM1, KCNJ2 and ANKB were sequenced to detect the variants related to CPVT. The relationship between the genotypes and phenotypes was analyzed to direct the target therapy.
Results:Recurrent syncope induced either by exercise or extreme frightened fear was observed in this patient. There was no positive family history of syncope or sudden death. The resting electrocardiography and echocardiography of the patient were normal, while the exercise testing revealed bidirectional and polymorphic ventricular tachycardia. A cardiac ryanodine receptor gene mutation (R2401H) was identified in this patient, while this mutation was absent in his parents and sister and 400 controls. No variant was detected in the remaining five candidate genes. Treatment with high dose of metoprolol succinate (118.75 mg/d) was effective and patient was free of syncopal attack during the 2 years follow-up.
Conclusion:This is the first report on RyR2-R2401H mutation in Chinese patient with CPVT, and high dose of metoptolol is the effective therapy option for CPVT related to RyR2 mutation.
