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Genetics and cardiac channelopathies

Campuzano, Oscar; Beltrán-Álvarez, Pedro; Iglesias, Anna; Scornik, Fabiana; Pérez, Guillermo; Brugada, Ramon

Authors

Oscar Campuzano

Profile image of Pedro Beltran-Alvarez

Dr Pedro Beltran-Alvarez P.Beltran-Alvarez@hull.ac.uk
Senior Lecturer in Health and Climate Change and Programme co-Director of the MSc Health and Climate Change

Anna Iglesias

Fabiana Scornik

Guillermo Pérez

Ramon Brugada



Abstract

Sudden cardiac death is a major contributor to mortality in industrialized nations; in fact, it is the cause of more deaths than acquired immune deficiency syndrome, lung and breast cancer, and stroke together. Frequently, the autopsy becomes the principal diagnostic tool because macroscopic and microscopic analyses reveal the underlying cause of death. However, a significant number of sudden cardiac deaths remain unexplained. These cases are referred to as "natural" or arrhythmogenic. In the young, in up to 50% of sudden cardiac death cases, sudden death is the first and only clinical manifestation of an inherited cardiac disease that had remained undetected by conventional clinical investigations. To improve diagnosis, genetic testing has recently been added to these clinical tools. During the last two decades, there has been considerable progress in the understanding about genetics of sudden cardiac death. With that new information, the probands and their family members can make an informed decision regarding their care and know whether and to what extent they are at risk of suffering from the disease. Thus, genetic technology and expertise have become essential for the diagnosis of some forms of inherited cardiac diseases and to provide a basis for subsequent prevention strategies. This review focuses on recent advances in the understanding of cardiopathies owing to genetic investigations. © 2010 Lippincott Williams & Wilkins.

Citation

Campuzano, O., Beltrán-Álvarez, P., Iglesias, A., Scornik, F., Pérez, G., & Brugada, R. (2010). Genetics and cardiac channelopathies. Genetics in Medicine, 12(5), 260-267. https://doi.org/10.1097/GIM.0b013e3181d81636

Journal Article Type Review
Acceptance Date Feb 1, 2010
Online Publication Date Apr 8, 2010
Publication Date May 1, 2010
Deposit Date Apr 1, 2022
Journal Genetics in Medicine
Print ISSN 1098-3600
Electronic ISSN 1530-0366
Publisher American College of Medical Genetics and Genomics
Peer Reviewed Peer Reviewed
Volume 12
Issue 5
Pages 260-267
DOI https://doi.org/10.1097/GIM.0b013e3181d81636
Keywords Genetics; Sudden cardiac death; Arrhythmias; Ion channels
Public URL https://hull-repository.worktribe.com/output/3570137