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NHLBI TOPMed: Pulmonary Vascular Disease Phenomics Program (PVDOMICS)

Pulmonary Vascular Diseases (PVD) are classified into 5 World Health Organization (WHO) groups using clinical presentation and hemodynamics. WHO 1 Pulmonary Arterial Hypertension (PAH) is rare with heritable [HPAH] known deleterious genetic variants associated with severe, progressive lethal disease, and disproportionately affects women. Little is known of the more common WHO 2-5, which have PVD related to heart, lung, blood and sleep (HLBS) diseases. Current classification and guidelines offer no PVD-specific therapy for WHO 2-5. They receive standard of care for their HLBS disease, although they suffer much higher mortality than their nonPVD HLBS counterparts. The NHLBI Pulmonary Vascular Disease OMICS (PVDOMICS) network was created to establish a deeply-characterized cohort of all PVD patients linked to biospecimens to develop new classifications by characteristics (phenomes) associated with mechanisms of pathogenesis using multi-omic studies. PVDOMICS is the most thoroughly phenotyped PAH cohort, and the only cohort to include all 5 WHO and nonPVD comparators [patients with HLBS diseases without PVD, and healthy controls)].

All PVD and nonPVD comparator participants and healthy controls with blood samples were selected for sequencing in TOPMed.