Landscape of mutational profiles in a Polish cohort of patients diagnosed with idiopathic pulmonary arterial hypertension

Abstrakt
Introduction: "Pulmonary arterial hypertension (PAH) is a rare vascular disorder, characterized by narrowing of the pulmonary arteries due to vasoconstriction and vascular remodeling [1–3]. The national registry reports a PAH incidence of 5.2 cases per million per year and a prevalence of 30.8 cases per million in Poland [4, 5]. While its etiology remains partly unclear, genetic factors have been implicated in certain patient groups [6–8]. However, the molecular background of this population has not been systematically studied. Therefore, we aimed to comprehensively characterize the genetic landscape of PAH in Polish patients." (...)
Opis
Słowa kluczowe
Źródło
Kardiologia Polska. Polish Heart Journal 2026, Vol. 84, No 2
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Creative Commons Attribution International (CC BY) license