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

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 2.5-year-old p...

Full description

Saved in:
Bibliographic Details
Published inTurk Pediatri Arsivi Vol. 54; no. 2; pp. 119 - 124
Main Authors Sulu, Ayse, Baspinar, Osman, Aydin Sahin, Derya
Format Journal Article
LanguageEnglish
Published Turkey Kare Publishing 2019
Subjects
Case Report
FBLN 4 mutation
Aneurysm of the ascending aorta
cutis laxa type 1B
Online AccessGet full text

Cover

More Information
Summary: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 2.5-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.
ISSN:1306-0015
1308-6278
DOI:10.5152/TurkPediatriArs.2018.4658