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先天性长QT综合征是一组外显率不同的遗传性离子通道病,是心脏结构正常的青少年发生不明原因恶性室性心律失常和猝死的重要原因。典型病例通过心电图特征、家族史和临床表现可进行诊断。非典型病例或疑似病例进行基因测定、运动试验心电图、24h动态心动图检测或运用事件记录仪进行心电监测等,对明确诊断有一定价值。多种预防性治疗可有效降低致死性心律失常的发生风险,早期诊断具有重要意义。国际长QT综合征注册患者的资料表明,患者表型表达具有时间相关性和年龄特异性的特点,不同年龄、不同性别的患者发生心脏事件的风险不同,依据年龄-性别关系、心电图表现、临床表现和基因型表现,对患者进行连续的风险评估和随访在治疗过程中具有重要价值。
Congenital long QT syndrome is a group of hereditary ion channel disease with different penetrance. It is an important cause of unexplained malignant ventricular arrhythmia and sudden death in adolescents with normal cardiac structure. Typical cases can be diagnosed by ECG characteristics, family history and clinical manifestations. Atypical cases or suspected cases of genetic testing, exercise test ECG, 24h dynamic cardiogram detection or event recorder for ECG monitoring, a definite diagnosis of a certain value. A variety of preventive treatment can effectively reduce the risk of fatal arrhythmia, early diagnosis is of great significance. According to the data of patients registered with International Long QT Syndrome, the patients’ phenotype expression is time-related and age-specific. The patients with different ages and genders have different risk of developing cardiac events. According to the age-sex relationship, electrocardiogram, Performance and genotype performance, continuous patient risk assessment and follow-up in the treatment process is of great value.