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Naslov:Biomarkers and genetic determinants of cardiac sarcoidosis : current status, the unmet needs and future perspectives
Avtorji:ID Bajec, Tine (Avtor)
ID Harlander, Matevž (Avtor)
ID Koren Pucelj, Nadja (Avtor)
ID Kassi, Mahwash (Avtor)
ID Poglajen, Gregor (Avtor)
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (378,55 KB)
MD5: 3BA540DEECDF3EFF978D6A7A14C1F0ED
 
URL URL - Izvorni URL, za dostop obiščite https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2026.1754375/full
 
Jezik:Angleški jezik
Tipologija:1.02 - Pregledni znanstveni članek
Organizacija:Logo UKC LJ - Univerzitetni klinični center Ljubljana
Povzetek:Sarcoidosis is a systemic disorder driven by genetic predisposition, environmental exposures, and immune dysregulation, resulting in the formation of noncaseating granulomas across multiple organs. In cardiac sarcoidosis (CS), immune cell infiltration of the myocardium, epicardium, and endocardium may lead to conduction disturbances, ventricular arrhythmias, and heart failure. While overt cardiac involvement was historically considered rare, affecting only 5% of sarcoidosis patients, the wider availability and improved sensitivity of contemporary cardiac imaging have revealed a substantially higher burden, with cardiac involvement reaching up to 55% in selected, systematically screened populations. Current diagnostic approaches for CS, including endomyocardial biopsy (EMB), cardiovascular magnetic resonance (CMR), and fluorine-18 fluorodeoxyglucose–positron emission tomography (FDG-PET), offer valuable insights but are restricted by high costs, invasiveness, and limited sensitivity and specificity. These challenges, together with the disproportionate contribution of cardiac involvement to sarcoidosis-related mortality, underscore the need for innovative, non-invasive, and widely accessible diagnostic strategies. Emerging evidence suggests that novel serum biomarkers and genomic studies hold promise for transforming the diagnostic landscape of CS. Biomarkers may provide accessible, cost-effective tools to complement established diagnostic methods, while genetic insights could identify individuals at higher risk for cardiac involvement and stratify patients based on disease phenotype. This review examines current evidence on serum biomarkers and genetic studies in CS diagnosis, identifies critical knowledge gaps, and proposes future directions aimed at advancing diagnostic precision and improving clinical outcomes.
Ključne besede:biomarker, genetics, heart, sarcoidosis, therapy
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Leto izida:2026
Št. strani:str. 1-10
Številčenje:Vol. 13, [article no.] 1754375
PID:20.500.12556/DiRROS-28617 Novo okno
UDK:616.1
ISSN pri članku:2297-055X
DOI:10.3389/fcvm.2026.1754375 Novo okno
COBISS.SI-ID:271877123 Novo okno
Opomba:Nasl. z nasl. zaslona; Opis vira z dne 17. 3. 2026;
Datum objave v DiRROS:26.03.2026
Število ogledov:224
Število prenosov:151
Metapodatki:XML DC-XML DC-RDF
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Gradivo je del revije

Naslov:Frontiers in cardiovascular medicine
Skrajšan naslov:Front. cardiovasc. med.
Založnik:Frontiers Media S.A.
ISSN:2297-055X
COBISS.SI-ID:523093273 Novo okno

Gradivo je financirano iz projekta

Financer:ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
Številka projekta:P3-0457-2025
Naslov:Nove strategije diagnostike in zdravljenja srčnega popuščanja

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:biološki označevalec, genetika, srce, sarkoidoza, terapija


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