Journal
KOREAN CIRCULATION JOURNAL
Volume 42, Issue 4, Pages 288-291Publisher
KOREAN SOC CARDIOLOGY
DOI: 10.4070/kcj.2012.42.4.288
Keywords
Loeys-Dietz syndrome; Aortic aneurysm; Craniofacial abnormalities; Transforming growth factor-beta type II receptor
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Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-beta R 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-beta R 2 gene.
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