Article
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.
Forensic science, medicine, and pathology - 1 Sept 2018
Tuveng Jon M, Berling Britt-Marie, Bunford Gabor, Vanoye Carlos G, Welch Richard C, Leren Trond P, George Alfred L, Rognum Torleiv Ole
Abstract excerpt
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...
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