Pulmonary hypertension (PH) is a progressive disorder characterized by elevated pulmonary arterial pressure due to pulmonary vascular remodeling and endothelial dysfunction. Hereditary forms may present as isolated pulmonary arterial hypertension (PAH) or as part of multisystem vascular syndromes.

This panel includes genes associated with the major inherited forms of pulmonary hypertension, including heritable pulmonary arterial hypertension (PAH), pulmonary veno-occlusive disease (PVOD), hereditary hemorrhagic telangiectasia (HHT), and related vascular disorders. Representative genes include BMPR2, ACVRL1, ENG, EIF2AK4, SMAD9, TBX4, SOX17, KCNK3, and GDF2.

This panel is recommended for patients with idiopathic, familial, early-onset, or syndromic pulmonary hypertension, particularly when a hereditary etiology is suspected or when genetic confirmation may guide management and family screening.