open access
A novel variant of the CASQ2 gene in a Chinese family with catecholaminergic polymorphic ventricular tachycardia
Affiliations- Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56 South Lishi Road, Xicheng District Beijing China, 100045 Beijing, China
- Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing, China
- Sinopath Diagnostics, Beijing, China
open access
Abstract
Abstract
About this articleTitle
A novel variant of the CASQ2 gene in a Chinese family with catecholaminergic polymorphic ventricular tachycardia
Journal
Issue
Pages
756-758
Published online
2018-12-31
Page views
1211
Article views/downloads
1085
DOI
Pubmed
Bibliographic record
Cardiol J 2018;25(6):756-758.
Authors
Lu Gao
Lang Cui
Lihui Zheng
Zhihui Zhao
Qirui Li
Xia Yu
Jiahui Wang
Yue Yuan
References (7)- Leenhardt A, Denjoy I, Guicheney P. Catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol. 2012; 5(5): 1044–1052.
- Behere SP, Weindling SN. Catecholaminergic polymorphic ventricular tachycardia: An exciting new era. Ann Pediatr Cardiol. 2016; 9(2): 137–146.
- Venetucci L, Denegri M, Napolitano C, et al. Inherited calcium channelopathies in the pathophysiology of arrhythmias. Nat Rev Cardiol. 2012; 9(10): 561–575.
- Priori SG, Wilde AA, Horie M, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Heart Rhythm. 2013; 10(12): e85–108.
- Ge HY, Li XM, Jiang H, et al. [Clinical challenges in the management of catecholaminergic polymorphic ventricular tachycardia in children]. Zhonghua Er Ke Za Zhi. 2017; 55(12): 926–931.
- Hazle MA, Shellhaas RA, Bradley DJ, et al. Arrhythmogenic channelopathy syndromes presenting as refractory epilepsy. Pediatr Neurol. 2013; 49(2): 134–137.
- Paludan-Müller C, Ahlberg G, Ghouse J, et al. Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants. Clin Genet. 2017; 91(1): 63–72.
