Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics
Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/25/3/1826 |
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| author | Krzysztof Badura Dominika Buławska Bartłomiej Dąbek Alicja Witkowska Wiktoria Lisińska Ewa Radzioch Sylwia Skwira Ewelina Młynarska Jacek Rysz Beata Franczyk |
| author_facet | Krzysztof Badura Dominika Buławska Bartłomiej Dąbek Alicja Witkowska Wiktoria Lisińska Ewa Radzioch Sylwia Skwira Ewelina Młynarska Jacek Rysz Beata Franczyk |
| author_sort | Krzysztof Badura |
| collection | DOAJ |
| description | Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit signs of structural heart disease during autopsy, suggesting the potential significance of channelopathies in this group of age. Channelopathies constitute a highly heterogenous group comprising various diseases such as long QT syndrome (LQTS), short QT syndrome (SQTS), idiopathic ventricular fibrillation (IVF), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and early repolarization syndromes (ERS). Although new advances in the diagnostic process of channelopathies have been made, the link between a disease and sudden cardiac death remains not fully explained. Evolving data in electrophysiology and genetic testing suggest previously described diseases as complex with multiple underlying genes and a high variety of factors associated with SCD in channelopathies. This review summarizes available, well-established information about channelopathy pathogenesis, genetic basics, and molecular aspects relative to principles of the pathophysiology of arrhythmia. In addition, general information about diagnostic approaches and management is presented. Analyzing principles of channelopathies and their underlying causes improves the understanding of genetic and molecular basics that may assist general research and improve SCD prevention. |
| first_indexed | 2024-03-08T03:54:51Z |
| format | Article |
| id | doaj.art-96cc092ff5ca4ec2bc6e19201066ae43 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-08T03:54:51Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-96cc092ff5ca4ec2bc6e19201066ae432024-02-09T15:14:46ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-02-01253182610.3390/ijms25031826Primary Electrical Heart Disease—Principles of Pathophysiology and GeneticsKrzysztof Badura0Dominika Buławska1Bartłomiej Dąbek2Alicja Witkowska3Wiktoria Lisińska4Ewa Radzioch5Sylwia Skwira6Ewelina Młynarska7Jacek Rysz8Beata Franczyk9Department of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrology, Hypertension and Family Medicine, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandDepartment of Nephrocardiology, Medical University of Lodz, Ul. Zeromskiego 113, 90-549 Lodz, PolandPrimary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit signs of structural heart disease during autopsy, suggesting the potential significance of channelopathies in this group of age. Channelopathies constitute a highly heterogenous group comprising various diseases such as long QT syndrome (LQTS), short QT syndrome (SQTS), idiopathic ventricular fibrillation (IVF), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and early repolarization syndromes (ERS). Although new advances in the diagnostic process of channelopathies have been made, the link between a disease and sudden cardiac death remains not fully explained. Evolving data in electrophysiology and genetic testing suggest previously described diseases as complex with multiple underlying genes and a high variety of factors associated with SCD in channelopathies. This review summarizes available, well-established information about channelopathy pathogenesis, genetic basics, and molecular aspects relative to principles of the pathophysiology of arrhythmia. In addition, general information about diagnostic approaches and management is presented. Analyzing principles of channelopathies and their underlying causes improves the understanding of genetic and molecular basics that may assist general research and improve SCD prevention.https://www.mdpi.com/1422-0067/25/3/1826channelopathyarrhythmiasudden cardiac deathlong QT syndromeBrugada syndromeearly repolarization syndrome |
| spellingShingle | Krzysztof Badura Dominika Buławska Bartłomiej Dąbek Alicja Witkowska Wiktoria Lisińska Ewa Radzioch Sylwia Skwira Ewelina Młynarska Jacek Rysz Beata Franczyk Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics International Journal of Molecular Sciences channelopathy arrhythmia sudden cardiac death long QT syndrome Brugada syndrome early repolarization syndrome |
| title | Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics |
| title_full | Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics |
| title_fullStr | Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics |
| title_full_unstemmed | Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics |
| title_short | Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics |
| title_sort | primary electrical heart disease principles of pathophysiology and genetics |
| topic | channelopathy arrhythmia sudden cardiac death long QT syndrome Brugada syndrome early repolarization syndrome |
| url | https://www.mdpi.com/1422-0067/25/3/1826 |
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