Article
Cardiac ryanodine receptor calcium release deficiency syndrome.
Science translational medicine - 3 Feb 2021
Sun Bo, Yao Jinjing, Ni Mingke, Wei Jinhong, Zhong Xiaowei, Guo Wenting, Zhang Lin, Wang Ruiwu, Belke Darrell, Chen Yong-Xiang, Lieve Krystien V V, Broendberg Anders K, Roston Thomas M, Blankoff Ivan, Kammeraad Janneke A, von Alvensleben Johannes C, Lazarte Julieta, Vallmitjana Alexander, Bohne Loryn J, Rose Robert A, Benitez Raul, Hove-Madsen Leif, Napolitano Carlo, Hegele Robert A, Fill Michael, Sanatani Shubhayan, Wilde Arthur A M, Roberts Jason D, Priori Silvia G, Jensen Henrik K, Chen S R Wayne
Abstract excerpt
Cardiac ryanodine receptor (RyR2) gain-of-function mutations cause catecholaminergic polymorphic ventricular tachycardia, a condition characterized by prominent ventricular ectopy in response to catecholamine stress, which can be reproduced on exercise stress testing (EST). However, reports of sudden cardiac death (SCD) have emerged in EST-negative individuals who have loss-of-function (LOF) RyR2 mutations. The...
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