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.

Inclusion Criteria:

- CTEPH cohort:

1. Confirmed CTEPH based on having undergone PEA surgery.

2. Strongly suspected CTEPH based on right heart catheterization data showing
mPAP>26 and PCWP<15, and imaging demonstrating chronic thromboembolic disease
(either ventilation/perfusion scan, CT pulmonary angiography, or conventional
pulmonary angiography).

- PE cohort:

1. PE diagnosed by CT pulmonary angiography or ventilation/perfusion scan within the
preceding 24 months.

2. No evidence of PH at the time of enrollment (based on absence of dyspnea,
exertional chest pain, or exertional presyncope on history, lack of physical exam
findings of PH or right heart failure, and lack of signs of PH on objective data
including echocardiography and/or right heart catheterization).

3. No evidence of chronic thromboembolic disease at the time of enrollment (based on
chronic appearing thrombus on CT pulmonary angiography or conventional pulmonary
angiography, or based on prior high probability ventilation/perfusion scan
showing a similar pattern of perfusion defects).

- PAH cohort:

1. Diagnosis of group 1 PAH.

2. Prior normal or low probability ventilation/perfusion scan.

3. No reported history of prior VTE events.

4. If available, all prior evaluations for VTE (including CT pulmonary angiography
and Doppler ultrasound exams) must also be negative.

Exclusion Criteria:

- Under the age of 18