摘要
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 explore the clinical features and hereditary characteristics of short QT syndrome in children in China. Methods The clinical data of a sick boy with short QT syndrome was analyzed, who was diagnosed and treated in our hospital in 2006 ,and hereditary investigation of 22 members in two family trees was performed. Results The patient was a 13-year-old boy. One week prior to admission, he had a syncope and convulson. He had no similar attack in the past. On physical examination, no significant signs were discovered. Electrocardiogram （ECG） showed sinai rhythm. Q-T interval 240ms, QTc 270ms, high and sharp T wave at lead Ⅱ, Ⅲ, avF, V4-6. Holter ECG showed occasional atrial and ventricular premeature contractians besides the above-mentioned changes. There were no abnomal findings at the eehocar- diogram and cardioroentgram. The detective values of myocardial enzymogram,cardiac troponin and kalium,natrium and calcium were within the normal range. Family survey indicated that the mother of the patient suddenly died at home 12 years ago. She had recurent attacks of syncope and convulsion before death for 2 years. Her ECG showed QT interval 260 - 280ms, high and sharp T wave. Except for the mother of the patient, the rest of the family members had no medical history of syncope,convulsion and sudden death. The ECG of this boy＇s father showed Q-T interval 380ms. The Q-T interval of the rest of the family was also normal. Conclusion The patient with short QT syndrome may have an attack history of syncope and convulsion. His ECG shows short Q-T interval （ QTc ≤ 300ms ）. The cardiac structure of the patient is normal. The patient may have a family history of sudden death. This case conforms to autosomal dominat inheritence.
出处
《中国实用儿科杂志》
CSCD
北大核心
2008年第10期736-739,共4页
Chinese Journal of Practical Pediatrics
关键词
儿童
短QT综合征
家系调查
Children
Short QT syndrome
Family line investigation
