A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. (2018)

• Record Type: Journal Article
• Authors: Yokoo, Keiki; Yamada, Gen; Chiba, Hirofumi; Ishikawa, Aki; Morisaki, Hiroko; Saijo, Hiroshi; Kudoh, Sayaka; Kitamura, Yasuo; Hirokawa, Naoki; Miyajima, Masahiro; Watanabe, Atsushi; Takahashi, Hiroki
• Is Part Of: Respiratory medicine case reports. Volume 25(2018)
• Page Start: 73
• Page End: 77
• Publication Date: 2018
• Subjects: Hereditary hemorrhagic telangiectasia -- Osler-Weber-Rendu disease -- Pulmonary arteriovenous malformation; Respiratory organs -- Diseases -- Periodicals; Chest -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory System -- Periodicals; Chest -- Diseases; Respiratory organs -- Diseases; Electronic journals; Periodicals; 616.2
• DOI: 10.1016/j.rmcr.2018.07.001
• Languages: English
• ISSNs: 2213-0071

Abstract

Abstract: We present a case series of four siblings with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVM). The patients' mother has HHT. Case 1: A 22-year-old man developed dyspnea and epistaxis. CT revealed a large PAVM, treated by segmentectomy. Case 2: A 27-year-old woman developed epistaxis and dyspnea. CT revealed three PAVMs, treated by partial resection. Case 3: A 20-year-old woman developed dyspnea. CT revealed multiple PAVMs, treated with endovascular occlusion of the largest one. Case 4: A 12-year-old woman developed epistaxis. CT revealed multiple PAVMs, observed without treatment. Genetic testing identified a new mutation, ENG c.1517T>C (p.Leu506Pro), in all patients and their mother. We suspect that HHT in these patients may be associated with this ENG mutation.