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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.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

NATIONAL INSTITUTE OF TUBERCULOSIS AND LUNG DISEASES
Address
26,Plocka 26
01 138 Warszawa
Poland

Participants (6)

CINECA INTERUNIVERSITY CONSORTIUM
Italy
Address
Via Magnaneli, 6/3
40033 Casalecchio Di Reno (Bologna)
HOPITAL ANTOINE BECLERE
France
Address
Avenue De La Porte De Trivaux
92140 Clamart
UNIVERSITAETSKLINIKUM HEIDELBERG
Germany
Address
Bergheimer Strasse 58
69115 Heidelberg
UNIVERSITE LIBRE DE BRUXELLES
Belgium
Address
Lennik Road 808
1070 Bruxelles
UNIVERSITY OF BOLOGNA
Italy
Address
Via Massarenti 9
40138 Bologna
UNIVERSITY OF LEICESTER
United Kingdom
Address
Adrian Building
LE1 7RH Leicester