| Naslov: | Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest |
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| Avtorji: | ID Vodnjov, Nina (Avtor)
ID Maver, Aleš (Avtor)
ID Peterlin, Borut (Avtor)
ID Writzl, Karin (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (723,94 KB)
MD5: BCE1FBAE3CAEF31DC61BD37D7C3003D4
 URL - Izvorni URL, za dostop obiščite https://ejfs.springeropen.com/articles/10.1186/s41935-025-00461-1
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | 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 identifed (likely) pathogenic (LP/P) variants in 2–50% of probands, with mean cohort ages ranging from 28 to 64 years. Due to inconsistent data in the literature, our study aimed to genetically characterise Slovenian SCA survivors with clinically confrmed/suspected cardiomyopathy (CM). The present study included 29 probands (17 women, 59%) with clinically confrmed/suspected CM who survived SCA and were referred to the Clinical Institute of Genomic Medicine for genetic testing between January 2010 and July 2024. The majority of probands (23; 79%) underwent whole exome sequencing, and the remainder either clinical exome (5; 17%) or panel sequencing (1; 4%). Genetic data were analysed following ACMG/AMP guidelines and ACGS recommendations. Results Probands survived SCA at a mean age of 49±17 years (range 15–71), and 12 (41%) were<50 years old. The majority had clinically confrmed/suspected arrhythmogenic (10; 34.5%) or dilated (9; 31.0%) CM, while the remainder had clinically undefned (5; 17.2%), hypertrophic (4; 13.8%), or non-compaction (1; 3.4%) CM. Seven LP/P variants in CM-related genes were identifed in eight (28.6%) probands. In addition, 16 variants of uncertain signifcance (VUS) were identifed in 12 (41.3%) probands. Probands’ age at SCA did not signifcantly afect the yield, as LP/P variants were identifed in four probands<50 years at SCA and in four>50 years (p=0.56), nor did the positive family history of heart disease (p=0.55) or sudden cardiac death (p=0.43). There were also no signifcant diferences in probands’ age and test outcome, as the mean age of patients with LP/P variants was 46±21 years, those with the VUS(s) were 45±15 years, and those without candidate variant(s) were 55±12 years (p=0.41). Conclusions LP/P variants were identifed in almost one-third of Slovenian SCA survivors with clinically confrmed/ suspected CM. Genetic testing of SCA survivors with structural clinical fndings provides additional confrmation of the clinical diagnosis and a basis for identifying relatives at risk of heart disease, allowing for better management. |
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| Ključne besede: | sudden cardiac arrest, genetic testing, molecular pathology, (likely) pathogenic variants, hereditary cardiomyopathy |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2025 |
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| Št. strani: | str. 1-5 |
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| Številčenje: | Vol. 15, iss. 42 |
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| PID: | 20.500.12556/DiRROS-28887  |
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| UDK: | 575:616.1 |
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| ISSN pri članku: | 2090-5939 |
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| DOI: | 10.1186/s41935-025-00461-1 |
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| COBISS.SI-ID: | 240148227 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 20. 6. 2025;
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| Datum objave v DiRROS: | 10.04.2026 |
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| Število ogledov: | 31 |
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| Število prenosov: | 14 |
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| Metapodatki: |    |
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