Deep phenotyping will be used by PVDOMICS (Pulmonary Vascular Disease Phenomics), a precision medicine program, to describe pulmonary vascular disease (PVD). PVDOMICS investigates the claim that combining clinical metrics with omic measurements would improve knowledge of PVD and enable an updated PVD classification. For a study, researchers sought to describe the clinical features and transplant-free survival in the PVDOMICS.

A cross-sectional research included participants with World Symposium Pulmonary Hypertension (WSPH) group 1–5 PH, disease comparators with comparable underlying conditions and moderate or no PH, and healthy control participants. Standard statistical procedures, such as log-rank tests for measuring time to transplant or mortality, were used to compare PH groups and comparators.

There were 1,193 subjects altogether. There were several WSPH groups found in 38.9% of PH individuals. In comparison to comparators, nocturnal desaturation was more commonly noted in groups 1, 3, and 4 PH. On chest computed tomography, ground glass opacities were seen in 50.2% of group 1 PH participants. Groups 1-3 PH had considerably lower carbon monoxide diffusing capacities than the corresponding comparators. In comparison to comparators, the WSPH groups 1-4 had a greater right atrial volume index. The mean pulmonary artery pressure across all 110 subjects was 21–24 mm Hg. In group 3 PH, transplant-free survival was the worst.

PVDOMICS recruited participants with moderate and mixed etiology PH, as well as the whole spectrum of PVD. Novel findings included altered sleep patterns in group 1 PH, poorest survival in group 3 PH, unexpected, frequent ground glass opacities on computed tomography, low diffusing capacity for carbon monoxide and enlarged right atrial volume index as shared features of groups 1-3 and 1-4 PH, respectively. The existing PVD categorization will be improved by PVDOMICS and a new knowledge of PVD will be made possible.

Reference: jacc.org/doi/10.1016/j.jacc.2022.05.038