Abstract
Loeys-Dietz (LDS) syndromes (types 1-5) are autosomal dominant conditions with pathogenic variants in TGFβR1, TGFβR2, SMAD3, TGFβ2 and TGFβ3 that affect the cardiovascular, musculoskeletal and craniofacial systems. Aortic root dissection is a major cause of mortality in these individuals.Aortic root dilation is often present in childhood and may be recognized in utero. Our case highlights the prenatal ultrasound features of LDS. This article is protected by copyright. All rights reserved.
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