Editorial
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Cardiol. May 26, 2015; 7(5): 230-237
Published online May 26, 2015. doi: 10.4330/wjc.v7.i5.230
Pulmonary hypertension in hereditary haemorrhagic telangiectasia
Veronique MM Vorselaars, Sebastiaan Velthuis, Repke J Snijder, Jan Albert Vos, Johannes J Mager, Martijn C Post
Veronique MM Vorselaars, Sebastiaan Velthuis, Martijn C Post, Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands
Repke J Snijder, Johannes J Mager, Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands
Jan Albert Vos, Department of Interventional Radiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands
Author contributions: Vorselaars VMM contributed to drafting the article; Vorselaars VMM, Velthuis S, Snijder RJ, Vos JA, Mager JJ and Post MC contributed to conception and design and final approval of the version to be published; Velthuis S, Snijder RJ, Vos JA, Mager JJ, Post MC contributed to revision of the article.
Conflict-of-interest: This manuscript has been seen and approved by all co-authors and the authors declare no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Veronique MM Vorselaars, MD, Department of Cardiology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM Nieuwegein, The Netherlands. m.post@antoniusziekenhuis.nl
Telephone: +31-88-3201228 Fax: +31-30-6092274
Received: October 22, 2014
Peer-review started: October 23, 2014
First decision: November 27, 2014
Revised: December 26, 2014
Accepted: February 9, 2015
Article in press: February 11, 2015
Published online: May 26, 2015
Processing time: 210 Days and 15.8 Hours
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.

Keywords: Hereditary haemorrhagic telangiectasia; High cardiac output; Pulmonary arterial hypertension; ENG; ACRVL1; Pulmonary hypertension

Core tip: Pulmonary hypertension (PH) is increasingly recognised as a severe complication of hereditary haemorrhagic telangiectasia (HHT), but the true prevalence of PH in HHT is not known. Post-capillary PH most often results from the high cardiac output associated with hepatic arteriovenous malformations. More rarely the HHT gene mutations (ACRVL1 or ENG) result in pre-capillary pulmonary arterial hypertension (PAH). Differentiation between post-capillary PH en pre-capillary PAH can be done by right heart catheterisation, and is of importance since both entities are associated with severe morbidity and mortality and have different options for treatments.