Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism.
Mark W DodsonMeghan M CirulisC Gregory ElliottPublished in: Pulmonary circulation (2022)
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.
Keyphrases
- pulmonary embolism
- venous thromboembolism
- pulmonary hypertension
- end stage renal disease
- pulmonary artery
- drug induced
- ejection fraction
- newly diagnosed
- genome wide
- inferior vena cava
- liver failure
- chronic kidney disease
- pulmonary arterial hypertension
- direct oral anticoagulants
- atrial fibrillation
- peritoneal dialysis
- copy number
- prognostic factors
- early onset
- gene expression
- hepatitis b virus
- patient reported outcomes