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.
Funding SchemeCSC - Cost-sharing contracts
40033 Casalecchio Di Reno (Bologna)
LE1 7RH Leicester