ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
Giant aortic aneurysm due to fibulin- 4 deficiency: case series
1 Division of Pediatric Cardiology, Department of Pediatrics, Gaziantep University School of Medicine  
2 Department of Pediatric Cardiology, Süleymaniye Maternity and Children's Health Training and Research Hospital, İstanbul, Turkey  
Turk Pediatri Ars ; : -
DOI: 10.5152/TurkPediatriArs.2018.4658
Key Words: Aneurysm of the ascending aorta, cutis laxa type 1B, FBLN 4 mutation
Abstract

Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and characterized primarily by vascular anomalies. We herein present five cases who are the members of same family. Primary cardiac findings of these cases are giant aortic aneurysms. One 2.5-year-old case with massive aneurysm of the ascending aorta died as a result of compression to the heart chambers, trachea and bronchi.  Benthall operation was performed in three of our patients who are under follow-up. One of the cases is still under clinical follow-up without surgery. After the diagnosis of the first case, genetic study was performed and FBLN 4 mutations have been searched for. Four new patients were detected during genetic screening of the family. Other 29 family members screened were negative for physical examination and echocardiography. Pedigree is important for early diagnosis of genetic diseases in asymptomatic individuals.

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