Giant aortic aneurysm due to fibulin-4 deficiency: case series

Sulu A., Baspinar O., Sahin D. A.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.54, no.2, pp.119-124, 2019 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 54 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.5152/turkpediatriars.2018.4658
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.119-124
  • Keywords: Aneurysm of the ascending aorta, cutis laxa type 1B, FBLN 4 mutation
  • Eskisehir Osmangazi University Affiliated: Yes


Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. One 25-year-old patient with a massive aneurysm of the ascending aorta died as a result of compression to the heart chambers, trachea, and bronchi. The bentall procedure was performed in three of our patients who are under follow-up. One patient is still under clinical follow-up without surgery. After the diagnosis of the first patient, a genetic study was performed in which FBLN 4 mutations were investigated. Four new patients were detected during genetic screening of the family. Other 29 family members were screened bur were negative in physical examinations and echocardiography. Pedigree is important for early diagnosis of genetic diseases in asymptomatic individuals.