A 23‑year‑old woman with Marfan syndrome and spine deformity (RCD code: I-2A.1)
Journal Title: Journal of Rare Cardiovascular Diseases - Year 2013, Vol 1, Issue 3
Abstract
Marfan syndrome is one of the most common heritable connective tissue disorders that is caused by various mutations of the Fibrillin-1(FBN1) gene. The cardinal features of Marfan syndrome are aortic root dilatation and ectopia lentis, but the abnormalities may alsoconcern other cardiovascular problems as well as musculoskeletal and central nervous systems, eyes, lungs and skin. Due to the highprevalence of disease the diagnosis and treatment may be often complicated. We present a 23-year-old female with Marfan syndromeand severe thoracic scoliosis, after the procedures of insertion of corrective rods in the past, who came to medical attention due to enlargementof the bulb of the aorta over 4-year period observation. The patient was treated conservatively and until present she remainsuneventful. We discuss the common presentation, diagnostic tools, and treatment options for patients with Marfan syndrome based onmost recent literature and guidelines. JRCD 2013; 1 (3): 36–42
Authors and Affiliations
Hanna Dziedzic-Oleksy, Lidia Tomkiewicz-Pająk, Piotr Wilkołek, Jerzy Sadowski
Keywords
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- EP ID EP245391
- DOI 10.20418/jrcd.vol1no3.123
- Views 71
- Downloads 0
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