Facial and Ocular Features of Marfan Syndrome

Juan Leoni,Heidi Connolly,Juan Bowen

doi:10.3390/diseases2040296

Abstract

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.

Highlights

A 59-year-old woman presents to your office with characteristic facial and ocular features of Marfan syndrome (MFS) including dolichocephaly, down-slanting palpebral fissures, high and arched palate, dental crowding and iridodonesis
She has 3 unaffected siblings, her 2 children have the syndrome with son requiring aortic valve-sparing surgery at a young age due to progressive aortic dilation
She had prior wrist and thumb signs that have disappeared with age-related reduced joint mobility and weight gain, as well as known dural ectasia on MRI. She had never been tested for fibrillin-1 gene mutation due to having typical phenotypical characteristics of Marfan. She met diagnostic criteria for MFS based on the revised Ghent nosology [1]

Summary

Introduction

A 59-year-old woman presents to your office with characteristic facial and ocular features of Marfan syndrome (MFS) including dolichocephaly (elongated face), down-slanting palpebral fissures, high and arched palate, dental crowding and iridodonesis (vibration of the iris with eye movement due to lens dislocation). Additional diagnostic features of MFS include aortic dilatation and bilateral ectopia lentis with multiple prior interventions She had prior wrist and thumb signs that have disappeared with age-related reduced joint mobility and weight gain, as well as known dural ectasia on MRI. She had never been tested for fibrillin-1 gene mutation due to having typical phenotypical characteristics of Marfan. She met diagnostic criteria for MFS based on the revised Ghent nosology (positive family history, systemic score > 7, ectopia lentis and aortic criteria Z-score > 2) [1]. She was not on beta blocker therapy due to prior drug intolerance

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