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Review

Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology

1
Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands
2
Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands
3
Department of Cardiology, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands
*
Author to whom correspondence should be addressed.
Academic Editor: Lukas J. A. C. Hawinkels
Int. J. Mol. Sci. 2021, 22(7), 3471; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22073471
Received: 2 February 2021 / Revised: 23 March 2021 / Accepted: 25 March 2021 / Published: 27 March 2021
(This article belongs to the Special Issue Endoglin in Health and Disease)
In this review, we discuss the role of transforming growth factor-beta (TGF-β) in the development of pulmonary vascular disease (PVD), both pulmonary arteriovenous malformations (AVM) and pulmonary hypertension (PH), in hereditary hemorrhagic telangiectasia (HHT). HHT or Rendu-Osler-Weber disease is an autosomal dominant genetic disorder with an estimated prevalence of 1 in 5000 persons and characterized by epistaxis, telangiectasia and AVMs in more than 80% of cases, HHT is caused by a mutation in the ENG gene on chromosome 9 encoding for the protein endoglin or activin receptor-like kinase 1 (ACVRL1) gene on chromosome 12 encoding for the protein ALK-1, resulting in HHT type 1 or HHT type 2, respectively. A third disease-causing mutation has been found in the SMAD-4 gene, causing a combination of HHT and juvenile polyposis coli. All three genes play a role in the TGF-β signaling pathway that is essential in angiogenesis where it plays a pivotal role in neoangiogenesis, vessel maturation and stabilization. PH is characterized by elevated mean pulmonary arterial pressure caused by a variety of different underlying pathologies. HHT carries an additional increased risk of PH because of high cardiac output as a result of anemia and shunting through hepatic AVMs, or development of pulmonary arterial hypertension due to interference of the TGF-β pathway. HHT in combination with PH is associated with a worse prognosis due to right-sided cardiac failure. The treatment of PVD in HHT includes medical or interventional therapy. View Full-Text
Keywords: HHT; endoglin; pulmonary vascular disease HHT; endoglin; pulmonary vascular disease
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MDPI and ACS Style

Bofarid, S.; Hosman, A.E.; Mager, J.J.; Snijder, R.J.; Post, M.C. Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology. Int. J. Mol. Sci. 2021, 22, 3471. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22073471

AMA Style

Bofarid S, Hosman AE, Mager JJ, Snijder RJ, Post MC. Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology. International Journal of Molecular Sciences. 2021; 22(7):3471. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22073471

Chicago/Turabian Style

Bofarid, Sala; Hosman, Anna E.; Mager, Johannes J.; Snijder, Repke J.; Post, Marco C. 2021. "Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology" Int. J. Mol. Sci. 22, no. 7: 3471. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22073471

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