Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death

被引：0

作者：

Jon M. Tuveng

Britt-Marie Berling

Gabor Bunford

Carlos G. Vanoye

Richard C. Welch

Trond P. Leren

Alfred L. George

Torleiv Ole Rognum

机构：

[1] Ringerike Hospital,Department of Medicine

[2] Vanderbilt University,Section of Laboratory Diagnostics

[3] Oslo University Hospital,Section of Forensic Pediatric Medicine, Clinic of Laboratory Medicine

[4] Oslo University Hospital,Institute of Clinical Medicine

[5] University of Oslo,Avdeling for Rettsmedisinske Fag, Seksjon for Rettsmedisinske Undersøkelser av Barn

[6] Oslo Universitetssykehus HF,undefined

来源：

Forensic Science, Medicine and Pathology | 2018年 / 14卷

关键词：

Sudden intrauterine death; Sudden maternal death in pregnancy; Long QT syndrome; Pheochromocytoma; Neurofibromatosis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother. Genetic screening also revealed a novel KCNH2mutation in both fetus and mother indicating type 2 congenital long-QT syndrome (LQTS). A catecholamine surge was suspected as the precipitating event of fetal cardiac arrhythmia and sudden fetal death, while the addition of emotional stress provoked a lethal cardiac event in the mother. This case illustrates the potential for lethal interactions between two occult diseases (pheochromocytoma, LQTS).

引用

页码：367 / 371

页数：4

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