Novel insight into the natural history of short QT syndrome.
Novel insight into the natural history of short QT syndrome.
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DOI：
10.1016/j.jacc.2013.09.078
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发表时间：
2014-04-08
影响因子：
24
通讯作者：
Priori, Silvia G.
中科院分区：
文献类型：
--
作者：
Mazzanti, Andrea;Kanthan, Ajita;Monteforte, Nicola;Memmi, Mirella;Bloise, Raffaella;Novelli, Valeria;Miceli, Carlotta;O'Rourke, Sean;Borio, Gianluca;Zienciuk-Krajka, Agnieszka;Curcio, Antonio;Surducan, Andreea Elena;Colombo, Mario;Napolitano, Carlo;Priori, Silvia G.
本研究旨在进一步了解迄今为止所描述的最大的短QT综合征（SQTS）患者队列的自然史、家族和遗传筛查的结果以及致突变机制。SQTS是一种罕见的遗传性疾病，与危及生命的心律失常相关，其自然史尚未完全确定。研究了73例SQTS患者（84%为男性;年龄，26 ± 15岁;校正的QT间期，329 ± 22 ms），62例患者随访60 ± 41个月（中位数，56个月）。心脏骤停（CA）是最常见的症状（40%的先证者;范围，<1个月至41岁）。CA的发生率在生命的第一年为4%，在20至40岁之间每年为1.3%;到40岁首次发生CA的概率为41%。尽管男性占优势，但女性患者的风险特征与男性重叠（p = 0.49）。遗传筛查的产量很低（14%），尽管家族性疾病存在于44%的kinflora。CA病史是随访时复发的唯一预测因素（p < 0.0000001）。观察到两种室颤发作模式，并在多次发生CA的患者中重现。心律失常主要发生在休息时。SQTS是高度致命的; CA通常是该疾病的第一个表现，在生命的第一年发病率达到高峰。CA的幸存者有很高的CA复发率，因此，强烈建议在这组患者中植入除颤器。
This study intends to gain further insights into the natural history, the yield of familial and genetic screening, and the arrhythmogenic mechanisms in the largest cohort of short QT syndrome (SQTS) patients described so far. SQTS is a rare genetic disorder associated with life-threatening arrhythmias, and its natural history is incompletely ascertained. Seventy-three SQTS patients (84% male; age, 26 ± 15 years; corrected QT interval, 329 ± 22 ms) were studied, and 62 were followed for 60 ± 41 months (median, 56 months). Cardiac arrest (CA) was the most frequent presenting symptom (40% of probands; range, <1 month to 41 years). The rate of CA was 4% in the first year of life and 1.3% per year between 20 and 40 years; the probability of a first occurrence of CA by 40 years of age was 41%. Despite the male predominance, female patients had a risk profile superimposable to that of men (p = 0.49). The yield of genetic screening was low (14%), despite familial disease being present in 44% of kindreds. A history of CA was the only predictor of recurrences at follow-up (p < 0.0000001). Two patterns of onset of ventricular fibrillation were observed and were reproducible in patients with multiple occurrences of CA. Arrhythmias occurred mainly at rest. SQTS is highly lethal; CA is often the first manifestation of the disease with a peak incidence in the first year of life. Survivors of CA have a high CA recurrence rate; therefore, implantation of a defibrillator is strongly recommended in this group of patients.
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影响因子：
24
作者：
Giustetto, Carla;Schimpf, Rainer;Gaita, Fiorenzo
通讯作者：
Gaita, Fiorenzo
DOI：
10.1073/pnas.1218154110
发表时间：
2013-03-12
影响因子：
11.1
作者：
Deo, Makarand;Ruan, Yanfei;Priori, Silvia G.
通讯作者：
Priori, Silvia G.
影响因子：
37.8
作者：
Antzelevitch, Charles;Pollevick, Guido D.;Wolpert, Christian
通讯作者：
Wolpert, Christian
影响因子：
37.8
作者：
Gaita, F;Giustetto, C;Borggrefe, M
通讯作者：
Borggrefe, M
影响因子：
37.8
作者：
Rautaharju, Pentti M.;Surawicz, Borys;Gettes, Leonard S.
通讯作者：
Gettes, Leonard S.