Cargando…
Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go
Brugada syndrome (BrS) is an arrhythmogenic disorder which was first described in 1992. This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden death. BrS is a fatal disease with gender and age preferences. It occurs mainly in...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197104/ https://www.ncbi.nlm.nih.gov/pubmed/30483629 http://dx.doi.org/10.1080/20961790.2017.1333203 |
_version_ | 1783364689339613184 |
---|---|
author | Wu, Yeda Ai, Mei Bardeesi, Adham Sameer A. Xu, Lunwu Zheng, Jingjing Zheng, Da Yin, Kun Wu, Qiuping Zhang, Liyong Huang, Lei Cheng, Jianding |
author_facet | Wu, Yeda Ai, Mei Bardeesi, Adham Sameer A. Xu, Lunwu Zheng, Jingjing Zheng, Da Yin, Kun Wu, Qiuping Zhang, Liyong Huang, Lei Cheng, Jianding |
author_sort | Wu, Yeda |
collection | PubMed |
description | Brugada syndrome (BrS) is an arrhythmogenic disorder which was first described in 1992. This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden death. BrS is a fatal disease with gender and age preferences. It occurs mainly in young male subjects with a structurally normal heart and silently progresses to sudden death with no significant symptoms. The prevalence of BrS has been reported in the ranges of 5–20 per 10 000 people. The disease is more prevalent in Asia. Nowadays, numerous variations in 23 genes have been linked to BrS since the first gene SCN5A has been associated with BrS in 1998. Not only can clinical specialists apply these discoveries in risk assessment, diagnosis and personal medicine, but also forensic pathologists can make full use of these variations to conduct death cause identification. However, despite the progress in genetics, these associated genes can only account for approximately 35% of the BrS cases while the etiology of the remaining BrS cases is still unexplained. In this review, we discussed the prevalence, the genes associated with BrS and the application of molecular autopsy in forensic pathology. We also summarized the present obstacles, and provided a new insight into the genetic basis of BrS. |
format | Online Article Text |
id | pubmed-6197104 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Taylor & Francis |
record_format | MEDLINE/PubMed |
spelling | pubmed-61971042018-11-27 Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go Wu, Yeda Ai, Mei Bardeesi, Adham Sameer A. Xu, Lunwu Zheng, Jingjing Zheng, Da Yin, Kun Wu, Qiuping Zhang, Liyong Huang, Lei Cheng, Jianding Forensic Sci Res Authoritative Review Brugada syndrome (BrS) is an arrhythmogenic disorder which was first described in 1992. This disease is a channelopathy characterized by ST-segment elevations in the right precordial leads and is susceptible to sudden death. BrS is a fatal disease with gender and age preferences. It occurs mainly in young male subjects with a structurally normal heart and silently progresses to sudden death with no significant symptoms. The prevalence of BrS has been reported in the ranges of 5–20 per 10 000 people. The disease is more prevalent in Asia. Nowadays, numerous variations in 23 genes have been linked to BrS since the first gene SCN5A has been associated with BrS in 1998. Not only can clinical specialists apply these discoveries in risk assessment, diagnosis and personal medicine, but also forensic pathologists can make full use of these variations to conduct death cause identification. However, despite the progress in genetics, these associated genes can only account for approximately 35% of the BrS cases while the etiology of the remaining BrS cases is still unexplained. In this review, we discussed the prevalence, the genes associated with BrS and the application of molecular autopsy in forensic pathology. We also summarized the present obstacles, and provided a new insight into the genetic basis of BrS. Taylor & Francis 2017-07-05 /pmc/articles/PMC6197104/ /pubmed/30483629 http://dx.doi.org/10.1080/20961790.2017.1333203 Text en © 2017 The Author(s). Published by Taylor & Francis Group on behalf of the Institute of Forensic Science, Ministry of Justice, People's Republic of China. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Authoritative Review Wu, Yeda Ai, Mei Bardeesi, Adham Sameer A. Xu, Lunwu Zheng, Jingjing Zheng, Da Yin, Kun Wu, Qiuping Zhang, Liyong Huang, Lei Cheng, Jianding Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
title | Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
title_full | Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
title_fullStr | Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
title_full_unstemmed | Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
title_short | Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
title_sort | brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go |
topic | Authoritative Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197104/ https://www.ncbi.nlm.nih.gov/pubmed/30483629 http://dx.doi.org/10.1080/20961790.2017.1333203 |
work_keys_str_mv | AT wuyeda brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT aimei brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT bardeesiadhamsameera brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT xulunwu brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT zhengjingjing brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT zhengda brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT yinkun brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT wuqiuping brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT zhangliyong brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT huanglei brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo AT chengjianding brugadasyndromeafataldiseasewithcomplexgeneticetiologiesstillalongwaytogo |