Forensic Science, Medicine and Pathology

, Volume 14, Issue 3, pp 367–371 | Cite as

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. GeorgeJr
  • Torleiv Ole RognumEmail author
Case Report


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).


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


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Jon M. Tuveng
    • 1
  • Britt-Marie Berling
    • 1
  • Gabor Bunford
    • 1
  • Carlos G. Vanoye
    • 2
  • Richard C. Welch
    • 2
  • Trond P. Leren
    • 3
  • Alfred L. GeorgeJr
    • 2
  • Torleiv Ole Rognum
    • 4
    • 5
    • 6
    Email author
  1. 1.Ringerike HospitalHønefossNorway
  2. 2.Department of MedicineVanderbilt UniversityNashvilleUSA
  3. 3.Section of Laboratory DiagnosticsOslo University HospitalOsloNorway
  4. 4.Section of Forensic Pediatric Medicine, Clinic of Laboratory MedicineOslo University HospitalOsloNorway
  5. 5.Institute of Clinical MedicineUniversity of OsloOsloNorway
  6. 6.Avdeling for Rettsmedisinske Fag, Seksjon for Rettsmedisinske Undersøkelser av BarnOslo Universitetssykehus HFOsloNorway

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