Identification of Heritable CTEPH

This project proposes to identify a cohort of Utah patients with CTEPH, and to perform a comprehensive analysis of family history and CTEPH risk factors in these patients, and in controls with acute pulmonary embolism (PE) and pulmonary arterial hypertension (PAH). Detailed family history interviews will be performed with all patients, and all enrolled patients will provide a blood sample for thrombophilia testing and for gene sequencing with the goal of identifying novel genetic variants that contribute to CTEPH risk.