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

Keiki Yokoo; Gen Yamada; Hirofumi Chiba; Aki Ishikawa; Hiroko Morisaki; Hiroshi Saijo; Sayaka Kudoh; Yasuo Kitamura; Naoki Hirokawa; Masahiro Miyajima; Atsushi Watanabe; Hiroki Takahashi

Respiratory Medicine Case Reports (Jan 2018)

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

Keiki Yokoo,
Gen Yamada,
Hirofumi Chiba,
Aki Ishikawa,
Hiroko Morisaki,
Hiroshi Saijo,
Sayaka Kudoh,
Yasuo Kitamura,
Naoki Hirokawa,
Masahiro Miyajima,
Atsushi Watanabe,
Hiroki Takahashi

Affiliations

Keiki Yokoo: Department of Respiratory Medicine, Teine Keijinkai Hospital, Japan; Corresponding author. Department of Respiratory Medicine, Teine Keijinkai Hospital, Teine-ku, Maeda 1-12, Sapporo 006-0811, Japan. Tel.: +81 11 681 8111.
Gen Yamada: Department of Respiratory Medicine, Teine Keijinkai Hospital, Japan
Hirofumi Chiba: Department of Respiratory Medicine and Allergology, Sapporo Medical University, Japan
Aki Ishikawa: Department of Medical Genetics, Sapporo Medical University, Japan
Hiroko Morisaki: Department of Medical Genetics, Sakakibara Heart Institute, Japan (Formerly, Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute), Japan
Hiroshi Saijo: Department of Respiratory Medicine and Allergology, Sapporo Medical University, Japan
Sayaka Kudoh: Department of Respiratory Medicine, Kushiro City General Hospital, Japan
Yasuo Kitamura: Department of Respiratory Medicine, Kushiro City General Hospital, Japan
Naoki Hirokawa: Department of Radiology, Sapporo Medical University, Japan
Masahiro Miyajima: Department of Respiratory Surgery, Sapporo Medical University, Japan
Atsushi Watanabe: Department of Respiratory Surgery, Sapporo Medical University, Japan
Hiroki Takahashi: Department of Respiratory Medicine and Allergology, Sapporo Medical University, Japan

Journal volume & issue: Vol. 25
pp. 73 – 77

Abstract

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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. Keywords: Hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu disease, Pulmonary arteriovenous malformation

Published in Respiratory Medicine Case Reports

ISSN: 2213-0071 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the respiratory system
Website: http://www.journals.elsevier.com/respiratory-medicine-case-reports/

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