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Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young
Thesis (PhD (Medical Criminalistics))--University of Pretoria, 2023.
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| Format: | Thesis |
| Language: | English |
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University of Pretoria
2023
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| _version_ | 1867613652121550848 |
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| access_status_str | Open Access |
| author2 | Van Niekerk, Chantal |
| author_browse | Van Niekerk, Chantal |
| author_facet | Van Niekerk, Chantal |
| collection | Thesis |
| dc_rights_str_mv | © 2023 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Thesis (PhD (Medical Criminalistics))--University of Pretoria, 2023. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/91631 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:39:32.610Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/91631 Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young Van Niekerk, Chantal u26376645@up.ac.za Du Toit-Prinsloo, Lorraine Van Deventer, Barbara Stroh UCTD Molecular pathology Genetics Forensics Health sciences articles SDG-03 SDG-03: Good health and well-being Thesis (PhD (Medical Criminalistics))--University of Pretoria, 2023. Sudden cardiac death is deemed a major global public health concern. In sub-Saharan Africa, including South Africa, there is a lack of reliable statistics on the incidence of SCD, even though a fourfold increase in noncommunicable diseases, largely due to cardiovascular diseases, has been reported. Considering that sudden cardiac deaths contribute to an estimated 50% of all cardiovascular deaths, it highlights South Africa’s need for research into better detection, treatment and prevention of sudden cardiac deaths. The aim of this study was to identify an inherited cardiac arrhythmogenic disorder, caused by variants in cardiomyopathy and arrhythmia-related genes, as a possible contributing factor to the cause of sudden cardiac deaths. Next generation sequencing identified a total of 178 different missense variants among the entire study population (n = 66);164 were known, documented variants whereas the remaining 14 were novel. A total of 127 variants were of like benign significance, 33 were variants of unknown significance, whereas the remaining six variants were of likely pathogenic significance. Post mortem genetic testing provided evidence of a genetic arrhythmic/cardiac conduction disorder as the probable pathogenic basis for 9% of sudden unexpected death / sudden unexplained infant death cases. Targeted next generation sequencing of 16 prevalent genes are recommended for routine testing in all unexplained sudden unexpected death / sudden unexpected infant death cases in South Africa. National Research Foundation (NRF) National Health Laboratory Services (NHLS) Forensic Medicine PhD (Medical Criminalistics) Unrestricted 2023-07-26T05:33:03Z 2023-07-26T05:33:03Z 2023-09 2023 Thesis * S2023 http://hdl.handle.net/2263/91631 https://doi.org/10.25403/UPresearchdata.23744715 en © 2023 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | UCTD Molecular pathology Genetics Forensics Health sciences articles SDG-03 SDG-03: Good health and well-being Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young |
| title | Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young |
| title_full | Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young |
| title_fullStr | Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young |
| title_full_unstemmed | Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young |
| title_short | Development of a cardiac channel molecular autopsy in a South African cohort of sudden unexplained deaths in the young |
| title_sort | development of a cardiac channel molecular autopsy in a south african cohort of sudden unexplained deaths in the young |
| topic | UCTD Molecular pathology Genetics Forensics Health sciences articles SDG-03 SDG-03: Good health and well-being |
| url | http://hdl.handle.net/2263/91631 https://doi.org/10.25403/UPresearchdata.23744715 |