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

Jon M. Tuveng, Britt Marie Berling, Gabor Bunford, Carlos G. Vanoye, Richard C. Welch, Trond P. Leren, Alfred L. George, Torleiv Ole Rognum*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)367-371
Number of pages5
JournalForensic Science, Medicine, and Pathology
Issue number3
StatePublished - Sep 1 2018


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

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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