ArticleAnnals of pediatric cardiology
Ascending aortic replacement for aneurysm in a 30-month-old child with EFEMP2-related cutis laxa.
Article in Annals of pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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