Ascending aortic replacement for aneurysm in a 30-month-old child with EFEMP2-related cutis laxa.

Abstract

EFEMP2-related cutis laxa is a rare autosomal recessive connective tissue disorder, and its characteristic symptom is arterial aneurysms and tortuosity. Herein, we describe a case of an ascending aortic aneurysm that was successfully managed with surgical repair in a 30-month-old female child with EFEMP2-related cutis laxa. Genetic testing revealed a compound heterozygous mutation in the EFEMP2 gene encoding fibulin-4 at 19 months of age. The aneurysm gradually enlarged in size, and the patient required ascending aortic replacement using the J-Graft with a diameter of 24 mm. Pathologic examination of the resected specimen showed medial thickening and tearing of elastic fibers in the media.