Advances in diagnosis and patient profiling in pulmonary arterial hypertension for precision medicine.

Abstract

Pulmonary arterial hypertension (PAH) is a rare but fatal disease characterized by progressive vascular remodeling, which results in increased pulmonary vascular resistance and elevated pulmonary arterial pressure. These changes are detrimental to the right ventricle (RV). If not treated, it can eventually lead to maladaptive RV structural changes, right heart failure, and death. Late diagnosis at an advanced stage remains a significant issue that limits the effectiveness of existing treatments. PAH pathophysiology is mediated by several molecular pathways that act on different cell types, including endothelial cells, smooth muscle cells, and fibroblasts. These cells exhibit cancer-like properties, including increased proliferation, resistance to apoptosis, and metabolic reprogramming. This review provides new insights into clinical and diagnostic research on PAH. Herein, we discuss classification systems, their relevance and significance in PAH, innovative imaging techniques, and genetic testing to identify hereditary risk factors. The potential of artificial intelligence to improve disease detection and management is also discussed in the context of diagnostic workflows. Overall, we aim to provide new insights in this review and emphasize the critical need for early diagnosis, personalized treatment strategies, and continued innovation in PAH care to improve patient outcomes and quality of life.