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Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

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Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (PE) are related phenotypes, however, previous reports have suggested that genetic risk factors for CTEPH and PE differ. Here we… Click to show full abstract

Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (PE) are related phenotypes, however, previous reports have suggested that genetic risk factors for CTEPH and PE differ. Here we report that a family history of VTE is equally frequent in individuals with CTEPH and PE, suggesting that shared genetic variants may influence risk of both phenotypes. We also provide the first estimate of the frequency of familial CTEPH, which we identified in 2.2% of CTEPH patients in our cohort.

Keywords: pulmonary hypertension; shared genetic; thromboembolic pulmonary; risk; chronic thromboembolic; genetic risk

Journal Title: Pulmonary Circulation
Year Published: 2022

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