Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies
Abstract Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular con...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2017-08-01
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| Series: | Journal of Biomedical Science |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12929-017-0364-6 |
| _version_ | 1831517595155562496 |
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| author | Simona Magi Vincenzo Lariccia Marta Maiolino Salvatore Amoroso Santo Gratteri |
| author_facet | Simona Magi Vincenzo Lariccia Marta Maiolino Salvatore Amoroso Santo Gratteri |
| author_sort | Simona Magi |
| collection | DOAJ |
| description | Abstract Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope. The purpose of this review is to provide a general overview of the main genetic variants that have been linked to the major congenital cardiac channelopathies and cardiomyopathies. Functional alterations of the related proteins are also described. |
| first_indexed | 2024-12-11T09:31:38Z |
| format | Article |
| id | doaj.art-1671c8b14c834f648bfed8eaf76dd36f |
| institution | Directory Open Access Journal |
| issn | 1423-0127 |
| language | English |
| last_indexed | 2024-12-11T09:31:38Z |
| publishDate | 2017-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Biomedical Science |
| spelling | doaj.art-1671c8b14c834f648bfed8eaf76dd36f2022-12-22T01:12:59ZengBMCJournal of Biomedical Science1423-01272017-08-0124111810.1186/s12929-017-0364-6Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathiesSimona Magi0Vincenzo Lariccia1Marta Maiolino2Salvatore Amoroso3Santo Gratteri4Department of Biomedical Sciences and Public Health, School of Medicine, University “Politecnica delle Marche”Department of Biomedical Sciences and Public Health, School of Medicine, University “Politecnica delle Marche”Department of Biomedical Sciences and Public Health, School of Medicine, University “Politecnica delle Marche”Department of Biomedical Sciences and Public Health, School of Medicine, University “Politecnica delle Marche”Department of Health Sciences, University “Magna Graecia”Abstract Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope. The purpose of this review is to provide a general overview of the main genetic variants that have been linked to the major congenital cardiac channelopathies and cardiomyopathies. Functional alterations of the related proteins are also described.http://link.springer.com/article/10.1186/s12929-017-0364-6CardiomyopathiesChannelopathiesCaveolinsGeneticsSudden cardiac death |
| spellingShingle | Simona Magi Vincenzo Lariccia Marta Maiolino Salvatore Amoroso Santo Gratteri Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies Journal of Biomedical Science Cardiomyopathies Channelopathies Caveolins Genetics Sudden cardiac death |
| title | Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies |
| title_full | Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies |
| title_fullStr | Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies |
| title_full_unstemmed | Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies |
| title_short | Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies |
| title_sort | sudden cardiac death focus on the genetics of channelopathies and cardiomyopathies |
| topic | Cardiomyopathies Channelopathies Caveolins Genetics Sudden cardiac death |
| url | http://link.springer.com/article/10.1186/s12929-017-0364-6 |
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