Recurrent aortic dissection: a peculiar complication of marfan syndrome

Abstract

Background. Marfan syndrome (MFS) is an autosomal dominant disorder caused by a mutation in FBN1 gene which involves abnormal connective tissue. MFS affects different parts of the body such as bones, joints and eyes, but the most serious complication involves cardiovascular system. Acute aortic dissection (AD) is a life-threatening condition caused by a tear in the intimal layer of the aorta or bleeding within the aortic wall, resulting in the separation of the layers of the aortic wall. Even though AD is a characteristic complication of the MFS, recurrent aortic dissection (RAD) is a rare phenomenon where MFS is a strong independentrisk factor. As many as 15% of aortic dissections are painless and often the signs on presentation are subtle and easily overlooked, RAD require a multidisciplinary approach and a complex treatment strategy. Case report. We present the case of a 47-year old female with a history of MFS since 1976, admitted for retrosternal chest pain worsening with activity, associated with shortness of breath and radiation of the pain over the abdominal area, for over a month. Her pathological background included: aortic dissection (ascending and descending thoracic aorta) in 2005, dilated cardiomyopathy, stage 3 hypertension, class IV NYHA chronic heart failure and superior and inferior vena cava thrombosis. The transthoracic echocardiography revealed an intimal flap and two lumina were visualized in the thoracic aorta under the origin of the left subclavian artery (LSA), bicuspid valve with severe aortic regurgitation, tricuspid insufficiency and a left atrial appendage thrombus. The thoraco-abdominopelvic CT has exposed an aortic dissection involving both the ascending and the descending aorta (Stanford A/DeBakey I). Under both medical and surgical treatment consisting in valvuloplasty and angioplasty the patient evolution was improving. Conclusions. RAD remains a challenging entity regarding both the diagnosis and management, but its incidence at patients with MFS may be reduced by regular clinical examination, screening and by imaging at the time of diagnosis and during follow-up.