Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation

Author:

Yokokawa Tetsuro12,Sugimoto Koichi12,Kimishima Yusuke1,Misaka Tomofumi13,Yoshihisa Akiomi13,Morisaki Hiroko4,Yamada Osamu5,Nakazato Kazuhiko1,Ishida Takafumi1,Takeishi Yasuchika1

Affiliation:

1. Department of Cardiovascular Medicine, Fukushima Medical University, Japan

2. Department of Pulmonary Hypertension, Fukushima Medical University, Japan

3. Department of Advanced Cardiac Therapeutics, Fukushima Medical University, Japan

4. Department of Medical Genetics, Sakakibara Heart Institute, Japan

5. Department of Pathology, National Cerebral and Cardiovascular Center, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Reference29 articles.

1. 1. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 24: 203-219, 2010.

2. 2. Marchuk DA, Guttmacher AE, Penner JA, Ganguly P. Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997. Am J Med Genet 76: 269-273, 1998.

3. 3. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 245: 31-39, 1999.

4. 4. McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 6: 1, 2015.

5. 5. Vorselaars VMM, Hosman AE, Westermann CJJ, et al. Pulmonary arterial hypertension and hereditary haemorrhagic telangiectasia. Int J Mol Sci 19: 3203, 2018.

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