Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

2016 ◽  
Vol 91 (1) ◽  
pp. 63-72 ◽  
Author(s):  
C. Paludan-Müller ◽  
G. Ahlberg ◽  
J. Ghouse ◽  
C. Herfelt ◽  
J.H. Svendsen ◽  
...  
2016 ◽  
Vol 5 (1) ◽  
pp. 45 ◽  
Author(s):  
Krystien VV Lieve ◽  
◽  
Arthur A Wilde ◽  
Christian van der Werf ◽  
◽  
...  

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but severe genetic cardiac arrhythmia disorder, with symptoms including syncope and sudden cardiac death due to polymorphic VT or ventricular fibrillation typically triggered by exercise or emotions in the absence of structural heart disease. The cornerstone of medical therapy for CPVT is β -blockers. However, recently flecainide has been added to the therapeutic arsenal for CPVT. In this review we summarise current data on the efficacy and role of flecainide in the treatment of CPVT.


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