Fig. 2: Transcriptomic profiling of the right ventricle in the confirmatory cohorts of patients with CTEPH.

a, RNA-seq analysis was performed on the RV tissue of patients with CTEPH (n = 71) in the confirmatory cohort. Patients were stratified into moderate-risk (B-prePEAm_RV, n = 30), intermediate-risk (B-prePEAi_RV, n = 23) and severe-risk (B-prePEAs_RV, n = 18) groups based on their clinical parameters and the ESC/ERS guidelines. b, PCA plot illustrating the RV transcriptomic profiles of patients in the B-prePEAm_RV and B-prePEAs_RV groups. Each patient in the B-prePEAs_RV group is represented by a red circle, and each patient in the B-prePEAm_RV group is represented by a green circle. c–e, Volcano plots showing the distribution of the genes in B-prePEAm_RV versus B-prePEAs_RV (c), B-prePEAm_RV versus B-prePEAi_RV (d) and B-prePEAi_RV versus B-prePEAs_RV (e). The significant DEGs (base mean ≥ 5; |log2(FC)| ≥ 0.585; P-adjusted value (Padj ) ≤ 0.05, two sided) were discriminated based on P < 0.05 and |log2(FC)| > 0.585 (red dots), with genes solely significant in P value represented by blue dots, those solely significant in log2(FC) represented by green dots and non-significant (NS) genes represented by gray dots. f, Venn diagrams of DEGs illustrate the common and distinct DEGs among the three groups of B-prePEAm_RV versus B-prePEAs_RV, B-prePEAm_RV versus B-prePEAi_RV and B-prePEAi_RV versus B-prePEAs_RV in the confirmatory cohort of patients with CTEPH. The counts of overlapping and distinct DEGs across four groups (A-prePEAm_RV versus A-prePEAs_RV, B-prePEAm_RV versus B-prePEAs_RV, B-prePEAi_RV versus B-prePEAs_RV and B-prePEAm_RV versus B-prePEAi_RV) are shown. g, Heatmap showing the top 20 overrepresented clusters of terms for all the DEGs between the following comparisons: B-prePEAi_RV versus B-prePEAs_RV, B-prePEAm_RV versus B-prePEAi_RV, B-prePEAm_RV versus B-prePEAs_RV and A-prePEAm_RV versus A-prePEAs_RV. Panel a created with BioRender.com.