Title |
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
|
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Published in |
Forensic Science, Medicine and Pathology, June 2018
|
DOI | 10.1007/s12024-018-9989-3 |
Pubmed ID | |
Authors |
Jon M. Tuveng, Britt-Marie Berling, Gabor Bunford, Carlos G. Vanoye, Richard C. Welch, Trond P. Leren, Alfred L. George, Torleiv Ole Rognum |
Abstract |
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). |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 4 | 22% |
Professor > Associate Professor | 2 | 11% |
Student > Ph. D. Student | 2 | 11% |
Other | 1 | 6% |
Unspecified | 1 | 6% |
Other | 3 | 17% |
Unknown | 5 | 28% |
Readers by discipline | Count | As % |
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Psychology | 3 | 17% |
Medicine and Dentistry | 3 | 17% |
Nursing and Health Professions | 1 | 6% |
Arts and Humanities | 1 | 6% |
Unspecified | 1 | 6% |
Other | 1 | 6% |
Unknown | 8 | 44% |