A 23‑year‑old woman with Marfan syndrome and spine deformity (RCD code: I-2A.1)

Hanna Dziedzic-Oleksy, Lidia Tomkiewicz‑Pająk, Piotr Wilkołek, Jerzy Sadowski, Piotr Podolec

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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 also
concern other cardiovascular problems as well as musculoskeletal and central nervous systems, eyes, lungs and skin. Due to the high
prevalence of disease the diagnosis and treatment may be often complicated. We present a 23-year-old female with Marfan syndrome
and severe thoracic scoliosis, after the procedures of insertion of corrective rods in the past, who came to medical attention due to enlargement
of the bulb of the aorta over 4-year period observation. The patient was treated conservatively and until present she remains
uneventful. We discuss the common presentation, diagnostic tools, and treatment options for patients with Marfan syndrome based on
most recent literature and guidelines. JRCD 2013; 1 (3): 36–42


Keywords


fibrillin mutation; aortic root dilatation; skeletal deformity

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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol1no3.123

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