An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing
We report a case of sudden unexpected death of a young woman who was found in a bathtub of hot water. The autopsy concluded that all possible causes of sudden loss of consciousness, except cardiac origin, could be excluded. However, the heart did not show any obvious pathological changes. We used ne...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2017-04-01
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| Series: | Clinical Medicine Insights: Case Reports |
| Online Access: | https://doi.org/10.1177/1179547617702884 |
| _version_ | 1818341609135144960 |
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| author | Yukiko Hata Koshi Kinoshita Naoki Nishida |
| author_facet | Yukiko Hata Koshi Kinoshita Naoki Nishida |
| author_sort | Yukiko Hata |
| collection | DOAJ |
| description | We report a case of sudden unexpected death of a young woman who was found in a bathtub of hot water. The autopsy concluded that all possible causes of sudden loss of consciousness, except cardiac origin, could be excluded. However, the heart did not show any obvious pathological changes. We used next-generation DNA sequencing (NGS) to examine 73 genes and detected 3 rare, potentially pathogenic variants with minor allele frequencies ⩽1.0%. The pathogenicity of these variants was evaluated using 8 in silico predictive algorithms, and SCN5A _p.Gly289Ser, CACNB2 _p.Ser502Leu, and MYH11 _p.Lys1573Glu were detected as possible pathogenic variants. Inherited heart disease is a likely cause of sudden unexpected deaths of young people in hot baths, even before the clinical manifestation of the disease. In the future, molecular analysis by NGS may help to predict young to early middle-aged people who could be at risk of sudden arrhythmogenic fatality in hot baths. |
| first_indexed | 2024-12-13T16:01:31Z |
| format | Article |
| id | doaj.art-d77d1133597944c4bdcee80ec69132e9 |
| institution | Directory Open Access Journal |
| issn | 1179-5476 |
| language | English |
| last_indexed | 2024-12-13T16:01:31Z |
| publishDate | 2017-04-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Clinical Medicine Insights: Case Reports |
| spelling | doaj.art-d77d1133597944c4bdcee80ec69132e92022-12-21T23:39:09ZengSAGE PublishingClinical Medicine Insights: Case Reports1179-54762017-04-011010.1177/117954761770288410.1177_1179547617702884An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA SequencingYukiko HataKoshi KinoshitaNaoki NishidaWe report a case of sudden unexpected death of a young woman who was found in a bathtub of hot water. The autopsy concluded that all possible causes of sudden loss of consciousness, except cardiac origin, could be excluded. However, the heart did not show any obvious pathological changes. We used next-generation DNA sequencing (NGS) to examine 73 genes and detected 3 rare, potentially pathogenic variants with minor allele frequencies ⩽1.0%. The pathogenicity of these variants was evaluated using 8 in silico predictive algorithms, and SCN5A _p.Gly289Ser, CACNB2 _p.Ser502Leu, and MYH11 _p.Lys1573Glu were detected as possible pathogenic variants. Inherited heart disease is a likely cause of sudden unexpected deaths of young people in hot baths, even before the clinical manifestation of the disease. In the future, molecular analysis by NGS may help to predict young to early middle-aged people who could be at risk of sudden arrhythmogenic fatality in hot baths.https://doi.org/10.1177/1179547617702884 |
| spellingShingle | Yukiko Hata Koshi Kinoshita Naoki Nishida An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing Clinical Medicine Insights: Case Reports |
| title | An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing |
| title_full | An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing |
| title_fullStr | An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing |
| title_full_unstemmed | An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing |
| title_short | An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing |
| title_sort | autopsy case of sudden unexpected death of a young adult in a hot bath molecular analysis using next generation dna sequencing |
| url | https://doi.org/10.1177/1179547617702884 |
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