Figure 1. Pulmonary arterial hypertension (PAH) patient sample flow diagram.
Plasma samples selected for cfDNA methylation analysis (n=96) were obtained from patients with idiopathic (n=42), connective tissue disease-associated (n=35) and portal hypertension-associated PAH (n=19). In addition to PAH patients, plasma samples were obtained in consecutively enrolled healthy controls (n=48; mean age 57 years; 32% female) at the NIH Clinical Center Department of Transfuison Medicine. Of these healthy control samples, 16 were randomly selected to undergo additional methylation sequencing analysis. Abbreviations: WHO, World Health Organization; PH, pulmonary hypertension; cfDNA, cell-free DNA; REVEAL, Registry to Evaluate Early And Long-term PAH Disease Management; IPAH, idiopathic PAH; CTD-PAH, connective tissue disease-associated PAH; PoHTN-PAH, portal hypertension-associated PAH.