European Commission logo
English English
CORDIS - EU research results
CORDIS
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.

Call for proposal

Data not available

Coordinator

NATIONAL INSTITUTE OF TUBERCULOSIS AND LUNG DISEASES
EU contribution
No data
Address
26,Plocka 26
01 138 WARSZAWA
Poland

See on map

Total cost
No data

Participants (6)