4 Result(s)
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Chapter and Conference Paper
Relationship Between Mutations in ENG and ALK1 Genes and the Affected Organs in Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disorder that causes refractory nasal bleeding, arteriovenous malformations in the lung (pulmonary arteriovenous fistula: PAVF), central nervous syst...
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Article
Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations
Actin, alpha-2, smooth muscle, aorta (ACTA2) mutations are one of the major causes of familial thoracic aortic aneurysms and dissections. The aim of this study was to review our clinical results of young adult...
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Chapter
Genetics of Marfan Syndrome, Related Disorders, and Bicuspid Aortic Valve
Recently, the genetic study of aortic diseases such as Marfan syndrome has been advanced, leading to not only identifying responsible genes but also providing better understanding of the pathophysiology and po...
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Chapter and Conference Paper
Validity of Using Ghent Criteria for Japanese Population Suspected of Marfan Syndrome
Background: Diagnosis of Marfan syndrome (MFS) has been made based on Ghent criteria. However, there exist differences in habitus between Japanese and Western populations. We examined the validity to use Ghent cr...
