A case report illustrating the conservative management of a 23-year-old woman with Marfan syndrome, severe thoracic scoliosis, and aortic bulb enlargement.
Conservative management may be feasible in select Marfan cases; leaves open need for prospective data before guiding practice.
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
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Dziedzic‐Oleksy et al. (2013) studied this question.
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