摘要
对1例遗传性长QT综合征(LQTS)患者(先证者)所在的家系进行普查,研究该家系成员的发病临床症状和心电图特点,推测其相应的基因型。按常规采集了25例家庭成员的临床病史及12导联心电图,测量QT间期及校正的QTc间期。结果:25例中只有3例LQTS,2例可疑,3例LQTS首次发病年龄不同,发病时临床症状不同,发病诱因及发病时间无一定规律,但都伴有血清钾的降低。预后好。结论:该家族LQTS伴低钾血症,据心电图和临床发病症状,不符合已发现的任何一类基因型,有可能为LQT2基因的突变。
To elucidate the clinical manifestations and electrocardiogram (ECG)characteristics and try to test the phenotype and genotype of the long QT syndrome(LQTS) family patients, the routine clinical check and ECG recordings were done among 25 family members.Both QT interval and QTc were measured. Results: Three family members were identified as affected with LQTS and 2 members with intermediate probability to LQTS. There were different clinical manifestations among three family members.Although factors and time were irregular,all of them suffered with hypokalemia.All patients were different age at the first episode occurrence favourable prognosis. Conclusions: The clinical manifestations and ECG characteristics of LQTS with hypokalemia from this reported family do not correspond with any genotypes.They may be caused by LQT_2 gene mutation.
出处
《中国心脏起搏与心电生理杂志》
2005年第3期188-190,共3页
Chinese Journal of Cardiac Pacing and Electrophysiology
