1例Timothy综合征(LQT8)患者胎儿2:1房室传导阻滞(RCDD代码:VI-1B-1.2)

Q4 Medicine

Journal of Rare Cardiovascular Diseases Pub Date : 2019-08-05 DOI:10.20418/JRCD.VOL4NO2.361

P. Yubbu, H. Chew, Y. Yakob, S. Lua, H. Samion

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引用次数: 0

摘要

长QT综合征(LQTS)可能是胎儿慢性心律失常的一个原因，也是心律失常患儿死亡的一个重要原因。我们提出的病例患者卡达山伊班血统与LQTS。产前检测为胎儿2:1房室传导阻滞和法洛四联症。出生后心电图示功能性2:1房室传导阻滞，QTc间隔690ms。双手和双脚畸形和皮肤并指指向经典蒂莫西综合征(TS) 1型的诊断。这种诊断是由一个杂合突变c.1216G> a分子证实的。p. (Gly406Arg)位于CACNA1C基因的8A外显子。据我们所知，这是卡达山伊班儿童报告的首例TS病例。JRCD 2019;4(2): 42-46。

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Foetal 2:1 atrioventricular block in a patient with Timothy syndrome (LQT8) (RCDD code: VI-1B-1.2)

Long QT syndrome (LQTS) may be a cause of foetal bradyarrhythmia and an important cause of death in children with arrhythmia. We present the case of a patient of Kadazan Iban descent with LQTS. He was detected prenatally to have foetal 2:1 atrioventricular (AV) block and tetralogy of Fallot. His postnatal electrocardiogram revealed a functional 2:1 AV block with QTc interval of 690 ms. Dysmorphism and cutaneous syndactyly of both hands and feet pointed to a diagnosis of classical Timothy syndrome (TS) type 1. This diagnosis was confirmed molecularly with a heterozygous mutation c.1216G>A. p. (Gly406Arg) at exon 8A in the CACNA1C gene. To the best of our knowledge, this is the first reported case of TS in a Kadazan Iban child. JRCD 2019; 4 (2): 42-46.

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来源期刊

Journal of Rare Cardiovascular Diseases Medicine-Cardiology and Cardiovascular Medicine

自引率

0.00%

发文量

审稿时长

23 weeks

期刊介绍： Journal of Rare Cardiovascular Diseases (JRCD) is an international, quarterly issued, peer-reviewed, open access, online journal that keeps cardiologists and non-cardiologists up-to-date with rare disorders of the heart and vessels. The Journal publishes fine quality review articles, original, basic and clinical sciences research papers, either positive or negative, case reports and articles on public health issues in the field of rare cardiovascular diseases and orphan cardiovascular drugs. Topics of interest include, but are not limited to the following areas: (1) rare diseases of systemic circulation (2) rare diseases of pulmonary circulation (3) rare diseases of the heart (cardiomyopathies) (4) rare congenital cardiovascular diseases (5) rare arrhythmogenic disorders (6) cardiac tumors and cardiovascular diseases in malignancy (7) cardiovascular diseases in pregnancy (8) basic science (9) quality of life