长QT综合征
医学
QT间期
尖端扭转
先证者
内科学
短QT综合征
心脏病学
心动过缓
突变
遗传学
基因
心率
生物
血压
作者
Hideki Itoh,Lia Crotti,Takeshi Aiba,Carla Spazzolini,Isabelle Denjoy,Véronique Fressart,Kenshi Hayashi,Tadashi Nakajima,Seiko Ohno,Takeru Makiyama,Jie Wu,Kanae Hasegawa,Elisa Mastantuono,Federica Dagradi,Matteo Pedrazzini,Masakazu Yamagishi,Myriam Berthet,Yoshitaka Murakami,Wataru Shimizu,Pascale Guicheney
标识
DOI:10.1093/eurheartj/ehv695
摘要
A third of aLQTS patients carry cLQTS mutations, those on KCNH2 being more common. The probability of being a carrier of cLQTS disease-causing mutations can be predicted by simple clinical parameters, thus allowing possibly cost-effective genetic testing leading to cascade screening for identification of additional at-risk family members.
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