一例威廉姆斯综合征并发沃尔夫-帕金森-怀特综合征的病例。

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-07-18 DOI:10.1002/bdr2.2385
Cem Karadeniz, Kaan Yıldız, Sedef Öksüz, Rüveyda Nur Keçici, Özgür Çoğulu
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引用次数: 0

摘要

导言:据报道,威廉姆斯综合征(WS)病例发生心脏性猝死(SCD)的风险增加了 25-100 倍。在没有任何心血管结构异常证据的病例中,也有 SCD 的报道。沃尔夫-帕金森-怀特(WPW)综合征的特点是 PR 间期短和三角波。室性期前收缩可通过肯特束发展为阵发性再发性心动过速,或较少发生心房颤动,在某些病例中,辅助通路有效折返期(APERP)低于 250 毫秒被认为是危险的,可能导致 SCD。与 WPW 相关的 WS 以前从未报道过:一名曾接受过 WS 随访的 11 岁男性因心悸主诉被转诊至儿童心脏病学门诊。心电图检查显示 PR 间期短,心电图出现三角波,与 WPW 一致。他接受了电生理检查(EPS)。进行了基本测量,发现在 280 毫秒周期心房起搏时存在 APERP。使用 4 毫米尖端非灌注射频(RF)消融导管释放射频能量,在该导管上接收到最佳心室-心房(VA)信号,AP 在数秒内消失:尽管WPW病例通常无症状或与SVT有关,但SCD的风险不容忽视。因此,所有 WPW 患者都应接受 EPS 检查以评估 AP 传导特性。由于与普通人群相比,WS 患者发生 SCD 的风险更高,因此,即使这些患者没有症状,也应进行 EPS 评估。
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A case of Williams syndrome with Wolff–Parkinson–White syndrome

Introduction

Williams syndrome (WS) cases have been reported to have with 25–100 times greater increased risk of sudden cardiac death (SCD). SCD has been reported in cases without any evidence of structural cardiovascular anomalies. Wolff–Parkinson–White (WPW) syndrome is characterized by short PR interval and delta wave. Ventricular preexcitations can develop paroxysmal reentrant tachycardia through Kent bundle or less frequent atrial fibrillation and in some cases with accessory pathway effective refractory period (APERP) under 250 ms considered as risky and may lead to SCD. WS associated with WPW has not been reported before.

Case Report

An 11-year-old male who had been followed up with WS was referred to pediatric cardiology outpatient clinic with the complaint of palpitation. Electrocardiographic examination showed short PR interval and delta wave in the ECG consistent with WPW. He underwent electrophysiological study (EPS). Basic measurements were performed, and APERP was found at 280 ms cycle atrial pacing. RF energy was delivered using a 4 mm tip nonirrigated radiofrequency (RF) ablation catheter where the best ventriculoatrial (VA) signals were received and the AP was abolished within few seconds.

Discussion and Conclusions

Although, WPW cases are usually asymptomatic or related to SVT, the risk of SCD should not be ignored. Thus, all patients with WPW deserve an EPS for assessing the AP conduction properties. Due to the increased risk of SCD in patients with WS compared to general population, in the presence of concomitant WPW, these patients should be evaluated with EPS even if they do not have symptoms.

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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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