Genetics and genetic testing in pulmonary arterial hypertension (RCD code: II-1A.2)

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Pulmonary arterial hypertension (PAH) is a rare disease with a high mortality and complex pathomechanism. Recent studies suggest an important role of genetic factors in the development of PAH. It was shown that patients with BMPR2 mutations present a disease at an earlier age and have more severe haemodynamics at diagnosis. Interestingly, in this disorder lifelong penetrance is estimated to be only about 20% and the mechanism of this phenomenon remains unknown. More recent studies focused on the mutational analysis of genes involved in TGFß signaling pathway in patients with PAH. The results of these studies are very promising but they still need to be confirmed. Moreover, data on the impact of identified mutations on the clinical course, PAH-specific treatment and prognosis in PAH is required. In Poland a multi-center study is planned to include patients from referral centers for pulmonary hypertension with diagnosed idiopathic, hereditary and drug-induced PAH or of pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH). The aim of the study is to perform an extended molecular analysis for better understanding the molecular basis of pathogenesis of PAH, incomplete penetrance and to create an algorithm of molecular diagnosis of PAH patients. On the basis of the nationwide registry of patients with PAH treated in referral centers in Poland the effect of the detected mutations on the clinical course, the effect of PAH-specific treatment and the prognosis in PAH will be assessed.


rare disease; genetics; pulmonary arterial hypertension; pulmonary veno‑occlusive disease; pulmonary capillary hemangiomatosis


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