Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency

Makoto Hibino, Yoshimasa Sakai, Wataru Kato, Keisuke Tanaka, Kazuyoshi Tajima, Takehiko Yokoyama, Mitsuji Iwasa, Hiroko Morisaki, Toyonori Tsuzuki, Akihiko Usui

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)e59-e61
JournalAnnals of Thoracic Surgery
Issue number2
Publication statusPublished - 02-2018
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Surgery
  • Pulmonary and Respiratory Medicine
  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency'. Together they form a unique fingerprint.

Cite this