Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Cardiol. 2010 Oct 1;106(7):1029-33. doi: 10.1016/j.amjcard.2010.05.041. Epub 2010 Aug 11.
Williams syndrome (WS) affects 1 in 8,000 live births and has a high risk of sudden death. No previous studies have evaluated corrected QT (QTc) prolongation in WS. Retrospective review of all patients with WS evaluated at our institution from January 1, 1980 to December 31, 2007 was performed. WS was diagnosed by a medical geneticist and/or by fluorescence in situ hybridization. Patients with ≥1 electrocardiogram (ECG) with sinus rhythm and measurable intervals were included. Normal control ECGs were identified from a large clinical database. Corrected JT (JTc) interval was calculated when QRS and QTc intervals were prolonged. QTc interval ≥460 ms and JTc interval >340 ms were defined as prolonged. Prevalence comparisons were made using Fisher's exact test. Statistical probability of <0.05 was considered significant. Of 270 patients identified, 188 had ECGs for review. Complete data were present in 499 of 517 ECGs (patients' mean age 10.3 ± 9.9 years); 1,522 normal ECGs of age-similar patients composed the control group. QTc prolongation prevalences were 2.0% in controls and 13.6% in WS (p <0.0001); in those, JTc prolongation prevalences were 1.8% in controls and 11.7% in WS (p <0.0001). Four patients died during follow-up; 2 had QTc prolongation and 1 died during noncardiac surgery. Another patient with QTc prolongation sustained cardiac arrest during a procedure. In conclusion, cardiac repolarization is prolonged in WS. Presence of prolonged cardiac repolarization may contribute to the high incidence of periprocedural mortality in these patients. All patients with WS should be screened for cardiac repolarization abnormalities, especially before surgery.
威廉姆斯综合征（WS）的发病率为每 8000 例活产儿中就有 1 例，并且有很高的猝死风险。此前尚无研究评估 WS 患者的校正 QT（QTc）延长。对 1980 年 1 月 1 日至 2007 年 12 月 31 日在我们机构接受评估的所有 WS 患者进行回顾性分析。WS 由医学遗传学家和/或荧光原位杂交诊断。纳入至少有 1 份窦性心律和可测量间期的心电图（ECG）的患者。从大型临床数据库中确定正常对照 ECG。当 QRS 和 QTc 间期延长时，计算校正 JT（JTc）间期。QTc 间期≥460ms 和 JTc 间期>340ms 定义为延长。使用 Fisher 确切检验进行患病率比较。统计学概率<0.05 被认为有显著意义。在确定的 270 例患者中，有 188 例进行了 ECG 复查。499/517 份 ECG （患者平均年龄 10.3 ± 9.9 岁）存在完整数据；年龄相似的 1522 例正常 ECG 组成对照组。对照组的 QTc 间期延长患病率为 2.0%，WS 组为 13.6%（p<0.0001）；其中 JTc 间期延长患病率对照组为 1.8%，WS 组为 11.7%（p<0.0001）。在随访期间有 4 例患者死亡；2 例存在 QTc 间期延长，1 例死于非心脏手术。另 1 例存在 QTc 间期延长的患者在手术过程中心脏骤停。总之，WS 患者的心脏复极延长。存在心脏复极延长可能导致这些患者围手术期死亡率较高。所有 WS 患者均应筛查心脏复极异常，尤其是在手术前。
