医学
肥厚性心肌病
外显率
无症状的
无症状携带者
心源性猝死
内科学
基因检测
MYH7
心脏病学
基因突变
风险因素
猝死
心肌病
突变
心力衰竭
遗传学
基因
表型
生物
基因亚型
作者
Imke Christiaans,Erwin Birnie,Irene M. van Langen,Karin Y. van Spaendonck‐Zwarts,J. Peter van Tintelen,Maarten P. van den Berg,Douwe E. Atsma,Apollonia T.J.M. Helderman-van den Enden,Yigal M. Pinto,J.F. Hermans-van Ast,Gouke J. Bonsel,Arthur A.M. Wilde
标识
DOI:10.1093/eurheartj/ehp539
摘要
At first cardiological evaluation almost one-quarter of asymptomatic carriers was diagnosed with HCM. Risk factors for SCD were frequently present and 11% of carriers could be at risk for SCD. Predictive genetic testing in HCM families and frequent cardiological evaluation on the presence of HCM and risk factors for SCD are justified until advanced age.
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