首先,我们认为长QT综合证是由于单基因突变引起的。结果表明有超过10-12种不同的基因与此相关。在这些基因中,3中主要基因与80%的临床病例相关。那三种基因突变有不同相关临床表现和治疗反应的表型。这些被命名为I型,II型和III型。I型钾离子通道突变是其主要特征,表现为运动诱导或情绪诱导晕厥或心源性死亡。这是β阻滞剂治疗的主要适应症。
International Circulation: What is the cause of long QT syndrome inducing cardio death? How to prevent?
《国际循环》:长QT间期综合征易发生猝死的原因及如何预防?
Prof. Masayasu Hiraoka: It depends on types of gene mutation. For example, type I patients should avoid swimming. Swimming is a very strong stimuli especially for school children. You have to ask them not to do swimming. For type II patients, when potassium level in the body becomes low, cardio events are provoked. They should keep potassium level by intaking potassium from drugs or food such as watermelons or other fresh fruits.
Masayasu Hiraoka教授:还是要依据基因突变的类型。例如,I型患者应该避免游泳,因为游泳是一项较强刺激尤其对于学校儿童来讲。你必须要求他们不能游泳。而II型患者来讲,当体内钾离子浓度水平变低时,心血管事件就会被诱发。他们就要通过从药物或食物如西瓜或者其他新鲜水果吸收钾离子来保持钾离子浓度水平。