Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Genetics of pulmonary hypertension

Pulmonary hypertension (PH) is a phenotype characterized by functional and structural changes in the pulmonary vasculature, leading to increased vascular resistance. ([1],[2]) The World Health Organization has classified PH into five different types: arterial, venous, hypoxic, thromboembolic or miscellaneous; details are available in the main guidelines. Group I of this classification, designated as pulmonary arterial hypertension (PAH), will remain the main focus here. The pathophysiology involves signaling, endothelial dysfunction, activation of fibroblasts and smooth muscle cells, interaction between cells within the vascular wall, and the circulating cells; as a consequence plexiform lesions are formed, which is common to both idiopathic and heritable PAH but are also seen in other forms of PAH. ([2],[3],[4]) As the pathology of PAH in the lung is well known, this article focuses on the genetic aspects associated with the disease and is a gist of several available articles in literature.