Genetic Analysis of Young Adult Patients With Aortic Disease Not Fulfilling the Diagnostic Criteria for Marfan Syndrome-Reference-Cited by-同舟云学术

Genetic Analysis of Young Adult Patients With Aortic Disease Not Fulfilling the Diagnostic Criteria for Marfan Syndrome

Published:2010 Issue:5 Volume:74 Page:990-997
ISSN:1346-9843
Container-title:Circulation Journal
language:en
Short-container-title:Circ J

Author:

Akutsu Koichi¹²,Morisaki Hiroko³,Okajima Toshiya¹,Yoshimuta Tsuyoshi¹,Tsutsumi Yoshiaki¹,Takeshita Satoshi¹,Nonogi Hiroshi¹,Ogino Hitoshi⁴,Higashi Masahiro⁵,Morisaki Takayuki³

Affiliation:

1. Department of Cardiovascular Medicine, National Cardiovascular Center

2. Department of Intensive and Cardiac Care Unit, Nippon Medical School

3. Department of Bioscience, National Cardiovascular Center

4. Department of Cardiovascular Surgery, National Cardiovascular Center

5. Department of Radiology, National Cardiovascular Center

Publisher

Japanese Circulation Society

Subject

Cardiology and Cardiovascular Medicine,General Medicine

Link

http://www.jstage.jst.go.jp/article/circj/74/5/74_CJ-09-0757/_pdf

Reference27 articles.

1. 1. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 2352: 279-281.

2. Heterozygous TGFBR2 mutations in Marfan syndrome

3. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

4. Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

5. 5. Morisaki H, Akutsu K, Ogino H, Kondo N, Yamanaka I, Tsutsumi Y, et al. Mutation of ACTA2 gene as an important cause of familial and non-familial non-syndromatic thoracic aortic aneurysm and/or dissection. Hum Mutat 2009; 30: 1406-1411.

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