Risk Prediction in Women With Congenital Long QT Syndrome.
Risk Prediction in Women With Congenital Long QT Syndrome.
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DOI：
10.1161/jaha.121.021088
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发表时间：
2021-07-20
影响因子：
5.4
通讯作者：
Zareba W
中科院分区：
文献类型：
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作者：
Goldenberg I;Bos JM;Yoruk A;Chen AY;Lopes C;Huang DT;Kutyifa V;Younis A;Aktas MK;Z Rosero S;McNitt S;Sotoodehnia N;Kudenchuk PJ;Rea TD;Arking DE;Scott CG;Briske KA;Sorensen K;J Ackerman M;Zareba W
我们的目标是为患有1型或2型长QT的女性提供心脏事件(CES)和危及生命的事件的个性化风险估计。该预后模型来自Rochester长QT综合征登记处，包括767名患有1型长QT(n=404)和2型长QT(n=363)的女性，年龄从15岁到60岁不等。风险预测模型包括以下变量：基因突变位置、QTc特异性阈值、晕厥病史和β阻滞剂治疗。建立了以CES(晕厥、心跳骤停或长QT综合征相关的心源性猝死)为终点的模型，并以危及生命的事件(心跳骤停流产、心源性猝死或适当的除颤器休克)的终点为应用对象。使用梅奥诊所遗传性心脏节律诊所的数据进行外部验证(N=467；类型1长QT[286]和类型2长QT[n=181])。在767名登记的女性中，累积随访时间为22-243个病人年，其中323名患者(42%)经历了≥1 CE。基于基因型-表型数据，我们确定了3个风险组，10年内CES的预测率从15%、29%到51%不等。相应的10年内危及生命事件的预计发生率分别为2%、5%和14%。C两个终点预测模型的统计量分别为0.68(95%可信区间0.65~0.71)和0.71(95%可信区间0.66~0.76)。该模型在外部验证Mayo诊所队列中的对应C统计为0.65(95%可信区间0.60-0.70)和0.77(95%可信区间0.70-0.84)。这是第一个风险预测模型，它基于个性化的基因-表型数据，为患有1型或2型长QT的女性的CES和危及生命的事件提供绝对风险估计。预测的风险估计可用于指导女性对长QT综合征的治疗。
We aimed to provide personalized risk estimates for cardiac events (CEs) and life‐threatening events in women with either type 1 or type 2 long QT. The prognostic model was derived from the Rochester Long QT Syndrome Registry, comprising 767 women with type 1 long QT (n=404) and type 2 long QT (n=363) from age 15 through 60 years. The risk prediction model included the following variables: genotype/mutation location, QTc‐specific thresholds, history of syncope, and β‐blocker therapy. A model was developed with the end point of CEs (syncope, aborted cardiac arrest, or long QT syndrome–related sudden cardiac death), and was applied with the end point of life‐threatening events (aborted cardiac arrest, sudden cardiac death, or appropriate defibrillator shocks). External validation was performed with data from the Mayo Clinic Genetic Heart Rhythm Clinic (N=467; type 1 long QT [n=286] and type 2 long QT [n=181]). The cumulative follow‐up duration among the 767 enrolled women was 22 243 patient‐years, during which 323 patients (42%) experienced ≥1 CE. Based on genotype‐phenotype data, we identified 3 risk groups with 10‐year projected rates of CEs ranging from 15%, 29%, to 51%. The corresponding 10‐year projected rates of life‐threatening events were 2%, 5%, and 14%. C statistics for the prediction model for the 2 respective end points were 0.68 (95% CI 0.65–0.71) and 0.71 (95% CI 0.66–0.76). Corresponding C statistics for the model in the external validation Mayo Clinic cohort were 0.65 (95% CI 0.60–0.70) and 0.77 (95% CI 0.70–0.84). This is the first risk prediction model that provides absolute risk estimates for CEs and life‐threatening events in women with type 1 or type 2 long QT based on personalized genotype‐phenotype data. The projected risk estimates can be used to guide female‐specific management in long QT syndrome.