ReviewInternational journal of molecular sciences2021
Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- Ruptured pulmonary arteriovenous malformation causing hemothorax during pregnancy: a case report.Journal of cardiothoracic surgery · 2026Article
- Epistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review.The Journal of international medical research · 2025Review
- Rapid improvement in postpartum pulmonary hypertension associated with hereditary hemorrhagic telangiectasia: A case report and review of literature.World journal of clinical cases · 2025Article
- ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies.BMC cardiovascular disorders · 2025Article
- Life-threatening massive hemoptysis due to pulmonary arteriovenous malformation: An uncommon case.Radiology case reports · 2025Article
- Case Report: Shared manifestation, distinct etiologies: severe pulmonary hypertension in both mother and neonate.Frontiers in pediatrics · 2025Article
- Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.Frontiers in cardiovascular medicine · 2025Article
- Hereditary haemorrhagic telangiectasias with recurrent ischemic stroke hinted by manganese deposition in the basal ganglia: a case report and literature review.BMC neurology · 2024Review
- Link between mutations inWorld journal of gastrointestinal surgery · 2024Article
- Pharmacological Agents and Potential New Therapies in Pulmonary Arterial Hypertension.Current vascular pharmacology · 2024Review
- Multiple pulmonary cavernous haemangiomas with concurrent primary pulmonary adenocarcinoma: a case report and literature review.Frontiers in oncology · 2024Article
- Pulmonary arteriovenous malformations in Rendu-Osler-Weber syndrome.Jornal vascular brasileiro · 2024Article
- Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review.Pulmonary circulation · 2023Review
- [Heart failure caused by congenital hepatic hemangioma complicated with arteriovenous fistula in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Insights into Endothelin Receptors in Pulmonary Hypertension.International journal of molecular sciences · 2023Review
- The Shunt of It.Chest · 2023Article
- A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?BMC cardiovascular disorders · 2023Article
- A case report of duodenal arteriovenous malformation: usefulness of intraoperative indocyanine green angiography for precise identification of the lesion.Surgical case reports · 2022Article
- Case report: Pulmonary arterial hypertension inFrontiers in cardiovascular medicine · 2022Article
- TEMPI Syndrome: Update on Clinical Features, Management, and Pathogenesis.Frontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
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.
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