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Updated: May 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Molecular and genetic background of sudden cardiac death]
József Simkó1, Zoltán Szabó, Kitti Barta
1Miskolci Semmelweis Ignác Egészségügyi Központ és Egyetemi Oktatókórház Nonprofit Kft. Belgyógyászati Intézet, Kardiológiai Osztály Miskolc. sjozs74@hotmail.com
Abstract:
Despite recent findings on the functional, structural and genetic background of sudden cardiac death, the incidence is still relatively high in the entire population. A thorough knowledge on susceptibility, as well as pathophysiology behind the development of malignant arrhythmias will help us to identify individuals at risk and prevent sudden cardiac death. This article presents a review of the current literature on the role of altered intracellular Ca2+ handling, acute myocardial ischaemia, cardiac autonomic innervation, renin-angiotensin-aldosterone system, monogenic and complex heritability in the pathogenesis of sudden cardiac death.
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