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
- inferior vena cava
- genome wide
- ejection fraction
- drug induced
- pulmonary arterial hypertension
- direct oral anticoagulants
- chronic kidney disease
- liver failure
- prognostic factors
- atrial fibrillation
- copy number
- early onset
- emergency department
- peritoneal dialysis
- dna methylation
- coronary artery
- intensive care unit
- gene expression
- aortic dissection
- patient reported outcomes