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目的 研究我国长QT综合征 (LQTS)病人的临床特征和基因突变特点。方法 按照 1993年Schwartz等提出的LQTS诊断标准确诊为本病的家系 85个 ,分别来自 18个省、市、自治区。其中 4 3个家系由中国离子通道病注册中心的协作成员提供 ,其余为北京大学人民医院的LQTS随访患者。对先证者及其家族成员进行 6导联或 12导联心电图同步记录 ,对先证者的临床情况进行综合分析。对先证者及其家庭成员抽取外周血标本 ,用PCR SSCP加测序验证或经心电图初步分型后再进行PCR SSCP及测序的方法进行基因筛查。结果 先证者平均发病年龄 (17 3± 14 2 )岁 ,在 2 0岁以前发病的占 6 0 % ;女性居多 ,男性占 2 4 % ,女性占 76 %。发病症状有晕厥 (91 8% )、黑(2 8 9% )、心悸 (2 5 0 % )、胸闷 (34 2 % )及其它如抽搐、胸背痛、头晕 (2 1 1% )等 ;诱发因素有情绪紧张或激动 (5 1 3% ) ,劳累、运动或体力劳动 (5 1 3% ) ,休息或睡眠 (2 6 3% ) ,突然惊吓 /电话铃响 (19 7% ) ,经期或产褥期 (15 8% ) ,其它如寒冷或发烧 (15 8% )。病人的QTc值为 (0 .5 6±0 .0 7)s。LQTS病人的心电图上T波多变 ,QT间期可出现暂时正常化。有猝死家族史的家系占31 6 %。有LQTS家族史的占 6 3%。在 85个LQTS先证者中 ,同时伴聋哑 1例 ,预激?
Objective To study the clinical features and gene mutation characteristics of patients with long QT syndrome (LQTS) in China. Methods According to the Schwartz et al. Proposed LQTS diagnosis standard in 1993, 85 pedigrees were diagnosed as this disease, from 18 provinces, municipalities and autonomous regions. Forty-three pedigrees were provided by collaborative members of the China Ion Channel Disease Registry and the rest were LQTS follow-up patients at Peking University People’s Hospital. Proximity of the proband and its family members 6 lead or 12 lead electrocardiogram synchronization records, the proband’s clinical situation a comprehensive analysis. Peripheral blood samples were drawn from probands and their family members and gene screening was performed by PCR SSCP plus sequencing or preliminary electrocardiogram classification followed by PCR SSCP and sequencing. Results The average age of onset of probands was (17 3 ± 14 2) years old, with onset of 60% before 20 years of age. The majority of women were male, accounting for 24% and women accounting for 76%. Symptoms were syncope (88%), blackheads (29%), palpitations (25%), chest tightness (34.2%) and other such as convulsions, chest pain, dizziness (21.1%), etc. ; The predisposing factors were emotional stress or agitation (51.3%), tiredness, exercise or manual labor (51.3%), rest or sleep (26.3%), sudden shock / telephone ringing Menstrual or puerperium (15 8%), others such as cold or fever (15 8%). The patient’s QTc value was (0.56 ± 0.0 7) s. T wave of LQTS patients ECG changes, QT interval may be temporary normalization. Family history of sudden death led to 31.6%. The family history of LQTS accounted for 63%. In 85 LQTS probands, accompanied by deaf and dumb in 1 case, pre-excited?