RT Book, Section A1 Moran, Rocio A1 Rigelsky, Christina A2 Dean, Steven M. A2 Satiani, Bhagwan A2 Abraham, William T. SR Print(0) ID 1105290665 T1 LOEYS DIETZ SYNDROME AND RELATED DISORDERS T2 Color Atlas and Synopsis of Vascular Diseases YR 2015 FD 2015 PB McGraw-Hill Medical PP New York, NY SN 9780071749541 LK accesssurgery.mhmedical.com/content.aspx?aid=1105290665 RD 2024/10/09 AB A 26-year-old woman was referred for evaluation of a possible connective tissue disorder. She first came to medical attention in early childhood when she was diagnosed with a pectus excavatum and joint hypermobility. Additional history included mitral valve prolapse, inguinal and umbilical hernias, as well as scoliosis. She carried the diagnosis of hypermobile Ehlers-Danlos syndrome (EDS) for many years yet had normal collagen studies for EDS type IV. At the age of 19 years, mitral valve repair for severe mitral valve regurgitation was performed. Six years later, she presented to the emergency room for evaluation of sudden-onset tachycardia and chest pain. Echocardiogram revealed a dilated aorta, and computed tomographic (CT) scan showed bilateral subclavian artery aneurysms. The physical examination was notable for normal height, weight, and body mass index (BMI). Marfan syndrome assessment revealed a systemic score of 6 with points for increased arm span to height ratio, pectus excavatum, positive wrist sign, mitral valve prolapse, and hindfoot deformity. Additional physical examination findings were notable for a bifid uvula and normal palate. A transforming growth factor beta (TGF-β) spectrum disorder was suspected and a c.1363T>A mutation in the TGFβR2 gene consistent with the diagnosis of Loeys Dietz syndrome (LDS) was confirmed on sequencing.