Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 29362193.
- Also identified by DOI 10.1016/j.athoracsur.2017.08.041.
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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.
Medical subject headings
- Aortic Aneurysm, Thoracic
- Cutis Laxa
- Extracellular Matrix Proteins