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Content archived on 2024-05-27

Early diagnosis and analysis of the genetic causes of primary pulmonary hypertension (pph), a rare and life- threateting disease

Objective

Primary pulmonary hypertension (PPH) is a rare, progressive disease that may serve as a model for pulmonary artery remodelling. Autosomal dominat mutations of the bone morphogenetic protein receptor 2 gene have recently been identified in 50% of patients with familial disease and in 25% of sporadic cases. The aetiology of PPH in the other patients remains unclear. Early diagnosis is crucial for therapy. In this proposal of 7 European PPH centres we will establish a European PPH registry and analyse further genetic causes of the disease. For early diagnosis of PPH family members of PPH index patients will undergo non-invasive screening (Dopller echocardiography during exercise an/or hypoxia; spiroergometry) as well as genetic analysis. Furthermore, we will study PPH phenotypes, genotype/phenotype correlations, the course of disease, and options for treatment.

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Topic(s)

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Funding Scheme

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CSC - Cost-sharing contracts

Coordinator

NATIONAL INSTITUTE OF TUBERCULOSIS AND LUNG DISEASES
EU contribution
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Address
26,Plocka 26
01 138 WARSZAWA
Poland

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Total cost

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Participants (6)

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