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目的探讨中国儿童短QT综合征的临床特征及遗传学特点。方法对中国医科大学附属第一医院儿科于2006年收治的1例儿童短QT综合征患儿(患儿男,13岁,以晕厥、抽搐1次为主诉入院,既往健康)临床资料进行分析,并对患儿父母两个家系的22名成员进行遗传学调查。结果查体无异常所见。体表心电图示窦性心律,Q-T间期240ms,QTc270ms,Ⅱ、ⅡI、avF、V4-6导联T波高尖;Holter心电图除见上述改变外,还可见房性和室性期前收缩,心脏彩色超声和心脏X线片未见异常;心肌酶谱、肌钙蛋白和血钾、钠、钙等离子检测值均在正常范围。家系调查表明患儿母亲于12年前猝死在家中,之前曾有反复晕厥、抽搐发作史。体表心电图示Q-T间期260～280ms,T波高尖。在多次住院抢救观察期间,心电图显示尖端扭转型室速、心室颤动。除患儿母亲外,其他成员均无晕厥、抽搐及猝死史,患儿父亲心电图Q-T间期380ms,其他健在者也未见Q-T间期缩短。结论短QT综合征可表现为晕厥、抽搐发作,心电图Q-T间期缩短、QTc≤300ms,心脏结构正常,可有家族猝死史。本例符合常染色体显性遗传。
Objective To investigate the clinical features and genetic characteristics of Chinese children with short QT syndrome. Methods The clinical data of 1 pediatric short QT syndrome (male, 13 years old, admitted to the hospital with syncope and convulsion once, previously healthy) in 2006 pediatric department of China Medical University Affiliated Hospital were analyzed. And 22 parents of the two families of children with genetic testing. Results no abnormal findings. Surface ECG showed sinus rhythm, QT interval 240ms, QTc270ms, Ⅱ, ⅡI, avF, V4-6 lead T wave tip; Holter ECG in addition to the above changes, but also showed atrial and ventricular premature contraction, heart color Ultrasound and cardiac X-ray showed no abnormalities; myocardial enzymes, troponin and potassium, sodium, calcium plasma test values were in the normal range. Pedigree survey showed that children and mothers died of sudden death at home 12 years ago, had repeated fainting, seizures history. Surface ECG Q-T interval 260 ~ 280ms, T wave tip. During multiple hospitalizations, the electrocardiogram showed torsades de pointes and ventricular fibrillation. Except children and mothers, the other members had no history of syncope, convulsions and sudden death. The Q-T interval of their father’s ECG was 380ms, and no Q-T interval shortening was seen in other healthy persons. Conclusion Short QT syndrome can be characterized as syncope, seizure, shortening of Q-T interval of ECG, QTc≤300ms, normal heart structure and sudden death of the family. This example is consistent with autosomal dominant inheritance.