title: Pulmonary hypertension in hereditary haemorrhagic telangiectasia.
abstract: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disorder characterised by vascular malformations in predominantly the brain, liver and lungs. Pulmonary hypertension (PH) is increasingly recognised as a severe complication of HHT. PH may be categorised into two distinct types in patients with HHT. Post-capillary PH most often results from a high pulmonary blood flow that accompanies the high cardiac output state associated with liver arteriovenous malformations. Less frequently, the HHT-related gene mutations in ENG or ACVRL1 appear to predispose patients with HHT to develop pre-capillary pulmonary arterial hypertension. Differentiation between both forms of PH by right heart catheterisation is essential, since both entities are associated with severe morbidity and mortality with different treatment options. Therefore all HHT patients should be referred to an HHT centre.
authors.affiliation: Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
authors.forename: Veronique Mm
authors.initials: VM
authors.lastname: Vorselaars
authors.affiliation: Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
authors.forename: Sebastiaan
authors.initials: S
authors.lastname: Velthuis
authors.affiliation: Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
authors.forename: Repke J
authors.initials: RJ
authors.lastname: Snijder
authors.affiliation: Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
authors.forename: Jan Albert
authors.initials: JA
authors.lastname: Vos
authors.affiliation: Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
authors.forename: Johannes J
authors.initials: JJ
authors.lastname: Mager
authors.affiliation: Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
authors.forename: Martijn C
authors.initials: MC
authors.lastname: Post
keywords: ACRVL1; ENG; Hereditary haemorrhagic telangiectasia; High cardiac output; Pulmonary arterial hypertension; Pulmonary hypertension