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Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

2001; Massachusetts Medical Society; Volume: 345; Issue: 5 Linguagem: Inglês

10.1056/nejm200108023450503

1533-4406

Richard C. Trembath, Jennifer R. Thomson, Rajiv D. Machado, Neil V. Morgan, Carl Atkinson, Ingrid Winship, Gérald Simonneau, Nazzareno Galiè, James E. Loyd, Marc Humbert, William C. Nichols, Jonathan Berg, Alessandra Manes, Julie McGaughran, Michael W. Pauciulo, Lisa Wheeler, Nicholas W. Morrell,

Medical Imaging and Pathology Studies

Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor β (TGF-β) superfamily of receptors. Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we investigated the genetic basis of lung disease in these patients.