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Phenotypic and HLA-...
Phenotypic and HLA-DRB1 allele characterization of Swedish cardiac sarcoidosis patients.
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- Eldhagen, Per (author)
- Karolinska Institutet
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- Bobbio, Emanuele (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Darlington, Pernilla (author)
- Karolinska Institutet
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- Grunewald, Johan (author)
- Karolinska Institutet
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- Eklund, Anders (author)
- Karolinska Institutet
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- Polte, Christian Lars (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Bergh, Niklas, 1979 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Bollano, Entela, 1970 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Sörensson, Peder (author)
- Karolinska Institutet
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- Kullberg, Susanna (author)
- Karolinska Institutet
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(creator_code:org_t)
- Elsevier BV, 2022
- 2022
- English.
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In: International journal of cardiology. - : Elsevier BV. - 1874-1754 .- 0167-5273. ; 359, s. 108-112
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Abstract
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- Early detection and initiation of treatment in cardiac sarcoidosis (CS) is believed to be crucial to reduce morbidity and mortality. The diagnosis of CS is challenging, especially in isolated CS (ICS). Certain human leukocyte antigen (HLA-DRB1) alleles associate with different phenotypes of sarcoidosis. Phenotypic and genotypic characterization of patients with CS may improve our ability to identify patients being at risk for developing CS.87 patients with CS, identified at two Swedish university hospitals were included. Phenotypic characteristics were extracted from the medical records and the patients were HLA-DRB1 typed.Median age at diagnosis was 55years, 37% were women. HLA-DRB1 distribution was similar to a general sarcoidosis population. A majority of patients (51/87) had CS as the first sarcoidosis presentation. They were younger (p=0.04), more often presenting with ventricular tachycardia (VT) or atrioventricular block (AVB) grade II or III (p<0.001), had lower left ventricular ejection fraction (LVEF) (p=0.002), lower serum angiotensin converting enzyme (s-ACE) (p=0.025), and fewer extra cardiac manifestations (ECM) (p=0.02) than those presenting with CS later.Of Swedish CS patients, 59% presented with cardiac involvement as first manifestation. They had more severe cardiac symptoms than patients presenting with CS later. This phenotype disclosed less ECM and lower s-ACE thus diagnosis can be missed or delayed. We did not observe significant differences in HLA-DRB1 allele frequency between patients with CS compared to sarcoidosis in general. Awareness of CS as a primary manifestation can enable early detection and adequate intervention.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Keyword
- Cardiac sarcoidosis
- HLA-DRB1 alleles
- Phenotype
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Eldhagen, Per
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Bobbio, Emanuele
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Darlington, Pern ...
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Grunewald, Johan
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Eklund, Anders
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Polte, Christian ...
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Bergh, Niklas, 1 ...
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Bollano, Entela, ...
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Sörensson, Peder
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Kullberg, Susann ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
- Articles in the publication
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International jo ...
- By the university
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University of Gothenburg
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Karolinska Institutet