Introduction: Pulmonary arterial hypertension (PAHT) is defined as an increase of mean pulmonary artery pressure above 25 mmHg at rest, or 30 mmHg on exercise, due to obliteration of small calibre pulmonary arteries by proliferation of endothelial cells and smooth muscle. Beside idiopathic PAHT and that associated with other conditions, a familial form has been identified.
State of the art: Family studies have shown an association between mutations of the BMPR2 gene and PAHT phenotypes. The products of this gene appear to be involved in vascular homeostasis and its mutations are the basis of a loss this function and, in consequence, proliferation of pulmonary vascular cells.
Perspectives: Certain characteristics, such as incomplete penetrance and genetic anticipation, lead to a complex relationship between genotype and phenotype and make genetic counselling difficult. Other members of the extended family of TGF-beta receptors are implicated in the development of the Osler-Rendu syndrome, but may also be associated with the development of PAHT.
Conclusion: Progress in genetics allows better understanding of the pathophysiology of this disease and could lead to new therapeutic possibilities.