THE PHENOTYPIC SPECTRUM OF MOST FREQUENT MUTATION RESPONSIBLE FOR THE SHORT QT SYNDROME

Dan Hu,Jiancheng Zhang, Yang Li,Ryan Pfeiffer,Michael H. Gollob,Jeff S. Healey,Daniel Toshio Harrell,Naomasa Makita,Haruhiko Abe,Yaxun Sun,Jihong Guo, Li Zhang,Gan-Xin Yan,Douglas Y. Mah,Edward P. Walsh, Harris Leopold,Carla Giustetto,Fiorenzo Gaita,Andrea Mazzanti,Silvia G. Priori,Charles Antzelevitch,Hector Barajas Martinez

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY（2016）

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Abstract

The short QT syndrome (SQTS) is a rare channelopathy associated with a high risk of life-threatening arrhythmias, sudden cardiac death (SCD) or sudden death (SD). This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with SQTS.Probands

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Key words

short qt syndrome,frequent mutation responsible,phenotypic

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