Radiological Category Musculoskeletal Principal Modality 1 Principal Modality

Radiological Category: Musculoskeletal Principal Modality (1): Principal Modality (2): Case Report #0638 Submitted by: Hongying He , M. D. , Ph. D. Faculty reviewer: Emma Ferguson, M. D Date accepted: 10 January, 2010 MRI

Case History 17 -year-old female with history of cardiovascular disease came in for follow up.

Radiological Presentations

Radiological Presentations

Radiological Presentations

Radiological Presentations

Test Your Diagnosis Which one of the following is your choice for the appropriate diagnosis? After your selection, go to next page. • Marfan syndrome • Ehler-Danlos syndrome • Tertiary syphilis • Trauma • Vasculitis (inflammatory arteritis)

Findings and Differentials Findings: Cardiac MRI gradient echo cine images at the left ventricular outlet and aortic root demonstrate marked dilation of the sinuses of Valsalva. There is significant aortic regurgitation, as shown by the black jet flow through the aortic valve in diastole. 3 D reconstruction image and post gadolinium MRA image of the ascending aorta show an indistinct sinotubular junction and dilation of the proximal ascending aorta. Differentials: • Marfan’s syndrome • Ehler-Danlos syndrome • Tertiary syphilis

Discussion The cardiac MRI demonstrates the typical appearance of annuloaortic ectasia, which is primarily seen in Marfan syndrome, Ehler-Danlos syndrome and tertiary syphilis. Tertiary syphilis is a very rare disease now, especially in pediatric patients. Thus, the leading diagnosis in this case is connective tissue disease such as Marfan and Ehler-Danlos syndromes. This patient actually has Marfan syndrome is a multisystemic connective-tissue disorder with a prevalence estimated at 2 -3 per 10, 000 people. It is an autosomal dominant inherited disorder. However, about 25 -30% of cases represent sporadic mutations. It is caused by mutations of the fibrillin-1 gene (FBN 1) on chromosome 15 which encodes a large glycoprotein that is a major component of extra-cellular microfibrils. The manifestations of Marfan syndrome include annuloaortic ectasia with or without aortic valve insufficiency, aortic aneurysm, aortic dissection, mitral valve prolapse, and pulmonary artery dilatation in the cardiovascular system; scoliosis, chest wall deformity, arachnodactaly, and acetabular protusion in the musculoskelatal system;

Discussion dural ectasia in the central nervous system; pneumothorax and bullae in the pulmonary system; and ectopia lentis and retinal detachment in the ocular system. In histologic specimens, the aortic wall demonstrates medial degeneration of the elastic tissue with cystic medial necrosis of the smooth muscle cells. This is shown on the histologic slide on the next page. The blue material annotated by * represents mucopolysaccharide deposition within the vessel wall. The most common causes of death are aortic dissection, congestive heart failure, and cardiac valve disease. However, over the past 30 years, improvements in diagnostic techniques and in medical and surgical therapeutic strategies have led to a considerable increase in the life expectancy of those with Marfan syndrome to a nearly normal level.

Cystic Medial Necrosis

Diagnosis Marfan syndrome.

Reference Ha HL et al. Imaging of Marfan Syndrome: Multisystemic Manifestations. Radiographics 2007; 27: 989 -1004 Habermann CR et al. MR Evaluation of Dural Ectasia in Marfan Syndrome: Reassessment of the Established Criteria in Children, Adolescents, and Young Adults. Radiology 2005; 234: 535 -541 Daeubler BF et al. Alterations of the Thoracic Spine in Marfan’s Syndrome. Amrican Journal of Radiology 2006; 186: 1246 -1251