| Literature DB >> 29362193 |
Makoto Hibino1, Yoshimasa Sakai2, Wataru Kato2, Keisuke Tanaka2, Kazuyoshi Tajima2, Takehiko Yokoyama3, Mitsuji Iwasa4, Hiroko Morisaki5, Toyonori Tsuzuki6, Akihiko Usui7.
Abstract
EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.Entities:
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Year: 2018 PMID： 29362193 DOI： 10.1016/j.athoracsur.2017.08.041
Source DB: PubMed Journal: Ann Thorac Surg ISSN： 0003-4975 Impact factor: 4.330