ArticleFrontiers in cardiovascular medicine2026
Integration of hereditary thrombophilia data and polygenic risk scores into prognostic models improves differential diagnosis of CTEPH.
Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Differential diagnosis between pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) is crucial for treatment selection, particularly regarding surgical intervention. The prevalence of hereditary thrombophilias in Russian CTEPH patients and the utility of genetic data in differential diagnosis remain understudied. Objectives: To evaluate the prevalence of inherited thrombophilia among patients with CTEPH and PAH, to benchmark the results against published data from other cohorts, and to assess the potential utility of integrating genetic findings and polygenic risk score (PRS) parameters with clinical data for differentiating CTEPH from PAH. Methods: The study included 390 patients (252 PAH, 138 CTEPH). Whole-genome sequencing was performed to analyze classical thrombophilia genes ( Results: Rare variants in thrombosis-associated genes were significantly more prevalent in patients with CTEPH than in those with PAH (12.3% vs. 1.2%, Conclusions: The genetic profile of CTEPH patients differs significantly from PAH, with a higher frequency of hereditary thrombotic risk factors. Integrating clinical data with polygenic risk scores and thrombophilia variants improves differential diagnosis accuracy and may optimize the clinical workup.
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