An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis. Issue 5 (14th March 2020)

• Record Type: Journal Article
• Authors: De Luca, Caterina; Bevilacqua, Elisa; Badr, Dominique A.; Cannie, Mieke M.; Sanchez, Teresa C.; Segers, Valérie; Keymolen, Kathelijn; Jani, Jacques C.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 5(2020)
• Page Start: 1255
• Page End: 1258
• Publication Date: 2020-03-14
• Subjects: ACVRL1 gene -- hereditary hemorrhagic telangiectasia -- prenatal diagnosis -- vein of Galen; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61535
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curaçao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arteriovenous malformation, or an appropriate family history. The diagnosis is classified as definite if three criteria are present, possible if two criteria are present, and unlikely if only one is present. Nowadays, the confirmation of HHT diagnosis is based on molecular genetic studies. It has been showed that only mutations of genes encoding proteins within the transforming growth factor beta signaling pathway were responsible for the manifestation of the disease. The vein of Galen malformation (VOGM) as a presenting sign of HHT is rare. The prenatal diagnosis of HHT is even rarer. Herein, we present a case of prenatally diagnosed case of HHT based on the presence of VOGM in the fetus. To our knowledge, it is the first time that the gene mutation discovered in this case manifested as VOGM in the fetal life.