Genetic alterations in bone morphogenic protein receptor 2 in Polish patients diagnosed with idiopathic pulmonary arterial hypertension

Abstrakt
Introduction: "Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by structural changes in the pulmonary vessels and elevated pressure in the pulmonary artery, leading to right ventricular hypertrophy and right heart failure [1–3]. Idiopathic PAH (IPAH) is diagnosed by excluding other potential causes of pulmonary hypertension. The most commonly mutated gene in PAH codes the bone morphogenic protein receptor 2 (BMPR2), a transmembrane receptor involved in cell-specific BMP signaling [4, 5]. In this study, we present the first comprehensive analysis of BMPR2 gene alterations in Polish patients diagnosed with IPAH." (...)
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Źródło
Kardiologia Polska. Polish Heart Journal 2026, Vol. 84, No 2
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Creative Commons Attribution International (CC BY) license