Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics
Cardiac channelopathies, also known as primary electrical heart diseases, are inherited genetic abnormalities of cardiomyocyte electrical behavior. Notable for their absence of structural heart diseases, they include a diverse group of diseases such as long QT syndrome, short QT syndrome, Brugada sy...
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| Format: | Article |
| Language: | English |
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Wiley
2025-05-01
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| Series: | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
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| Online Access: | https://www.ahajournals.org/doi/10.1161/JAHA.124.040072 |
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| author | Ryan Dib Nehme Lilas Sinno Wael Shouman Joanna A. Ziade Lama A. Ammar Ghadir Amin George W. Booz Fouad A. Zouein |
| author_facet | Ryan Dib Nehme Lilas Sinno Wael Shouman Joanna A. Ziade Lama A. Ammar Ghadir Amin George W. Booz Fouad A. Zouein |
| author_sort | Ryan Dib Nehme |
| collection | DOAJ |
| description | Cardiac channelopathies, also known as primary electrical heart diseases, are inherited genetic abnormalities of cardiomyocyte electrical behavior. Notable for their absence of structural heart diseases, they include a diverse group of diseases such as long QT syndrome, short QT syndrome, Brugada syndrome, early repolarization syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation, and carry the risk of malignant arrhythmias leading to sudden cardiac death. The genetic and molecular foundations of these diseases are diverse and complex, with evolving research highlighting the multifactorial nature of their pathophysiology and the intricate interplay of various genes in the manifestation of arrhythmias. While advances in diagnostic techniques, such as genetic testing and electrophysiological studies, have improved the identification and management of these conditions, the relationship between specific genetic mutations and sudden cardiac death remains incompletely understood. This review provides an overview of the molecular and genetic mechanisms underlying those inherited arrhythmias, exploring both well‐established and emerging data. Additionally, it discusses current diagnostic approaches and management strategies, aiming to enhance the understanding of these conditions and contribute to better sudden cardiac death prevention. |
| format | Article |
| id | doaj-art-ad52f821c09643c0bdbd4dbf0010343c |
| institution | OA Journals |
| issn | 2047-9980 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| spelling | doaj-art-ad52f821c09643c0bdbd4dbf0010343c2025-08-20T01:52:18ZengWileyJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease2047-99802025-05-0114910.1161/JAHA.124.040072Cardiac Channelopathies: Clinical Diagnosis and Promising TherapeuticsRyan Dib Nehme0Lilas Sinno1Wael Shouman2Joanna A. Ziade3Lama A. Ammar4Ghadir Amin5George W. Booz6Fouad A. Zouein7Department of Pharmacology and Toxicology American University of Beirut Faculty of Medicine Beirut LebanonDepartment of Pharmacology and Toxicology American University of Beirut Faculty of Medicine Beirut LebanonDepartment of Pharmacology and Toxicology American University of Beirut Faculty of Medicine Beirut LebanonDepartment of Pharmacology and Toxicology American University of Beirut Faculty of Medicine Beirut LebanonDepartment of Pharmacology and Toxicology American University of Beirut Faculty of Medicine Beirut LebanonThe Cardiovascular, Renal, and Metabolic Diseases Research Center of Excellence American University of Beirut Medical Center Beirut LebanonDepartment of Pharmacology and Toxicology, School of Medicine University of Mississippi Medical Center Jackson MS USADepartment of Pharmacology and Toxicology American University of Beirut Faculty of Medicine Beirut LebanonCardiac channelopathies, also known as primary electrical heart diseases, are inherited genetic abnormalities of cardiomyocyte electrical behavior. Notable for their absence of structural heart diseases, they include a diverse group of diseases such as long QT syndrome, short QT syndrome, Brugada syndrome, early repolarization syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation, and carry the risk of malignant arrhythmias leading to sudden cardiac death. The genetic and molecular foundations of these diseases are diverse and complex, with evolving research highlighting the multifactorial nature of their pathophysiology and the intricate interplay of various genes in the manifestation of arrhythmias. While advances in diagnostic techniques, such as genetic testing and electrophysiological studies, have improved the identification and management of these conditions, the relationship between specific genetic mutations and sudden cardiac death remains incompletely understood. This review provides an overview of the molecular and genetic mechanisms underlying those inherited arrhythmias, exploring both well‐established and emerging data. Additionally, it discusses current diagnostic approaches and management strategies, aiming to enhance the understanding of these conditions and contribute to better sudden cardiac death prevention.https://www.ahajournals.org/doi/10.1161/JAHA.124.040072cardiac electrophysiologychannelopathiesheart rhythm disordersinherited arrhythmiassudden cardiac death |
| spellingShingle | Ryan Dib Nehme Lilas Sinno Wael Shouman Joanna A. Ziade Lama A. Ammar Ghadir Amin George W. Booz Fouad A. Zouein Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease cardiac electrophysiology channelopathies heart rhythm disorders inherited arrhythmias sudden cardiac death |
| title | Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics |
| title_full | Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics |
| title_fullStr | Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics |
| title_full_unstemmed | Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics |
| title_short | Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics |
| title_sort | cardiac channelopathies clinical diagnosis and promising therapeutics |
| topic | cardiac electrophysiology channelopathies heart rhythm disorders inherited arrhythmias sudden cardiac death |
| url | https://www.ahajournals.org/doi/10.1161/JAHA.124.040072 |
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