Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest

Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest

Abstract Background Cardiomyopathies (CMs) present phenotypically on a spectrum and in a proportion of patients the initial presentation is sudden cardiac arrest (SCA). Studies performing genetic screening of SCA survivors have identified (likely) pathogenic (LP/P) variants in 2–50% of probands, wit...

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Bibliographic Details
Main Authors: Nina Vodnjov, Aleš Maver, Borut Petelin, Karin Writzl
Format: Article
Language:English
Published: SpringerOpen 2025-06-01
Series:Egyptian Journal of Forensic Sciences
Subjects:
Sudden cardiac arrest
Genetic testing
Molecular pathology
(likely) pathogenic variants
Hereditary cardiomyopathy
Online Access:https://doi.org/10.1186/s41935-025-00461-1
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https://doi.org/10.1186/s41935-025-00461-1

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