Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.
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DOI：
10.1016/j.jacc.2010.07.038
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发表时间：
2011-01-04
影响因子：
24
通讯作者：
Zhang L
中科院分区：
文献类型：
--
作者：
Goldenberg I;Horr S;Moss AJ;Lopes CM;Barsheshet A;McNitt S;Zareba W;Andrews ML;Robinson JL;Locati EH;Ackerman MJ;Benhorin J;Kaufman ES;Napolitano C;Platonov PG;Priori SG;Qi M;Schwartz PJ;Shimizu W;Towbin JA;Vincent GM;Wilde AA;Zhang L
本研究旨在评估校正QT（QTc）间期正常的长QT综合征（LQTS）患者的临床病程并确定危及生命事件的风险因素。目前关于隐匿性LQTS患者结局的数据有限。在来自7个多国LQTS登记中心的3，386名基因分型受试者中，检查了从出生到40岁期间心脏骤停（ACA）或心脏性猝死（SCD）的临床和遗传风险因素，这些受试者被归类为QTc正常范围的LQTS（≤440 ms [n = 469]）、QTc间期延长的LQTS（>440 ms [n = 1，392]）和未受影响的家族成员（基因分型阴性，≤440 ms [n = 1，525]）。QTc间期正常的LQTS患者中ACA或SCD的累积概率（4%）显著低于QTc间期延长的患者（15%）（p < 0.001），但高于未受影响的家族成员（0.4%）（p < 0.001）。QTc间期正常范围患者的ACA或SCD风险因素包括突变特征（跨膜错义与非跨膜或非错义突变：风险比：6.32; p = 0.006）和LQTS基因型（LQTS 1型：LQTS 2型，风险比：9.88; p = 0.03; LQTS 3型：LQTS 2型，风险比：8.04; p = 0.07），而临床因素（包括性别和QTc间期）仅在QTc间期延长的患者中与ACA或SCD风险显著增加相关（女性年龄>13岁，风险比：1.90; p = 0.002; QTc间期，每增加10 ms风险增加8%; p = 0.002）。经基因型确认的隐匿性LQTS患者约占LQTS高危人群的25%。遗传学数据，包括突变特征和LQTS基因型的信息，确定在这个总体风险较低的LQTS亚组中ACA或SCD的风险增加。
This study was designed to assess the clinical course and to identify risk factors for life-threatening events in patients with long-QT syndrome (LQTS) with normal corrected QT (QTc) intervals. Current data regarding the outcome of patients with concealed LQTS are limited. Clinical and genetic risk factors for aborted cardiac arrest (ACA) or sudden cardiac death (SCD) from birth through age 40 years were examined in 3,386 genotyped subjects from 7 multinational LQTS registries, categorized as LQTS with normal-range QTc (≤440 ms [n = 469]), LQTS with prolonged QTc interval (>440 ms [n = 1,392]), and unaffected family members (genotyped negative with ≤440 ms [n = 1,525]). The cumulative probability of ACA or SCD in patients with LQTS with normal-range QTc intervals (4%) was significantly lower than in those with prolonged QTc intervals (15%) (p < 0.001) but higher than in unaffected family members (0.4%) (p < 0.001). Risk factors ACA or SCD in patients with normal-range QTc intervals included mutation characteristics (transmembrane-missense vs. nontransmembrane or nonmissense mutations: hazard ratio: 6.32; p = 0.006) and the LQTS genotypes (LQTS type 1:LQTS type 2, hazard ratio: 9.88; p = 0.03; LQTS type 3:LQTS type 2, hazard ratio: 8.04; p = 0.07), whereas clinical factors, including sex and QTc duration, were associated with a significant increase in the risk for ACA or SCD only in patients with prolonged QTc intervals (female age >13 years, hazard ratio: 1.90; p = 0.002; QTc duration, 8% risk increase per 10-ms increment; p = 0.002). Genotype-confirmed patients with concealed LQTS make up about 25% of the at-risk LQTS population. Genetic data, including information regarding mutation characteristics and the LQTS genotype, identify increased risk for ACA or SCD in this overall lower risk LQTS subgroup.
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