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先天性长QT综合征异常基因型的心电图预测:101名相关家庭成员的经验

Electrocardiographic prediction of abnormal genotype in congenital long QT syndrome: experience in 101 related family members.

作者信息

Kaufman E S, Priori S G, Napolitano C, Schwartz P J, Iyengar S, Elston R C, Schnell A H, Gorodeski E Z, Rammohan G, Bahhur N O, Connuck D, Verrilli L, Rosenbaum D S, Brown A M

机构信息

The Heart and Vascular Research Center, Case Western Reserve University, Cleveland, Ohio 44109-1998, USA.

出版信息

J Cardiovasc Electrophysiol. 2001 Apr;12(4):455-61. doi: 10.1046/j.1540-8167.2001.00455.x.

Abstract

INTRODUCTION

Previous studies showed that diagnosing congenital long QT syndrome (LQTS) is difficult due to variable penetrance and genetic heterogeneity, especially when subjects from multiple families with diverse mutations are combined. We hypothesized that a combination of clinical and ECG techniques could identify gene carriers within a single family with congenital LQTS.

METHODS AND RESULTS

One hundred one genotyped members of a family with LQTS, including 26 carriers of a HERG mutation, underwent history and ECG analysis. Forty-eight family members also underwent exercise testing with QT and T wave alternans (TWA) analysis and 24-hour Holter monitoring with QT and heart rate variability analysis. A logistic regression model, which included age, gender, QTc, and QTc by age, provided the best prediction of gene carrier status, although there was substantial overlap (78%) of QTc among subjects with and without the mutation. QTc was not helpful as a discriminator in children < or = 13 years. TWA (observed infrequently) did not add significantly to the model's ability to predict abnormal genotype.

CONCLUSION

Even in this homogeneous LQTS population, the phenotype was so variable that clinical and detailed ECG analyses did not permit an accurate diagnosis of gene carrier status, especially in children. Sustained microvolt TWA was a specific (100%) but insensitive (18%) marker for LQTS. Its ability to predict risk of arrhythmia in this population remains to be determined. Genetic testing serves an essential role in screening for carriers of LQTS.

摘要

引言

先前的研究表明,由于外显率可变和基因异质性,诊断先天性长QT综合征(LQTS)很困难,尤其是当来自多个具有不同突变的家庭的受试者合并在一起时。我们假设临床和心电图技术的结合可以识别单个先天性LQTS家庭中的基因携带者。

方法和结果

一个LQTS家族的101名基因分型成员,包括26名HERG突变携带者,接受了病史和心电图分析。48名家庭成员还接受了运动试验及QT和T波交替(TWA)分析,以及24小时动态心电图监测及QT和心率变异性分析。一个包含年龄、性别、QTc以及QTc与年龄关系的逻辑回归模型对基因携带者状态提供了最佳预测,尽管有突变和无突变受试者之间的QTc有很大重叠(78%)。QTc对13岁及以下儿童作为鉴别指标并无帮助。TWA(很少观察到)对模型预测异常基因型的能力没有显著增加。

结论

即使在这个同质的LQTS人群中,表型也是如此多变,以至于临床和详细的心电图分析无法准确诊断基因携带者状态,尤其是在儿童中。持续性微伏TWA是LQTS的一个特异性(100%)但不敏感(18%)的标志物。其在该人群中预测心律失常风险的能力仍有待确定。基因检测在筛查LQTS携带者中起着至关重要的作用。

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