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Open AccessCase Report
Diseases 2014, 2(4), 296-300;

Facial and Ocular Features of Marfan Syndrome

Department of Cardiology, Mayo Clinic Jacksonville, FL 32224, USA
Department of Cardiology, Mayo Clinic Rochester, MN 55905, USA
Author to whom correspondence should be addressed.
Received: 13 June 2014 / Revised: 22 September 2014 / Accepted: 10 October 2014 / Published: 17 October 2014
(This article belongs to the Special Issue Marfan Syndrome: Recognition, Diagnosis and Managements)
Full-Text   |   PDF [168 KB, uploaded 17 October 2014]


Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and rupture remains a major cause of death in patients with unrecognized Marfan syndrome. Echocardiography is recommended as the initial imaging test, and once a dilated aortic root is identified magnetic resonance or computed tomography should be done to assess the entire aorta. Prophylactic aortic root replacement is safe and has been demonstrated to improve life expectancy in patients with Marfan syndrome. Medical therapy for Marfan syndrome includes the use of beta blockers in older children and adults with an enlarged aorta. Addition of angiotensin receptor antagonists has been shown to slow the progression of aortic root dilation compared to beta blockers alone. Lifelong and regular follow up in a center for specialized care is important for patients with Marfan syndrome. We present a case of a patient with clinical features of Marfan syndrome and discuss possible therapeutic interventions for her dilated aorta. View Full-Text
Keywords: Marfan syndrome; thoracic aortic aneurysm; aortic valve sparing root replacement Marfan syndrome; thoracic aortic aneurysm; aortic valve sparing root replacement
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Leoni, J.C.; Bowen, J.M.; Connolly, H.M. Facial and Ocular Features of Marfan Syndrome. Diseases 2014, 2, 296-300.

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