Acute Type a Aortic Dissection Revealing Undiagnosed Marfan Syndrome in a Young Patient: A Case Report

Abstract

Aim and Background:  Acute aortic dissection is a life-threatening cardiovascular emergency characterized by a tear in the aortic intima, allowing the entry of blood to the medial layer and the creation of a false lumen. In young patients, underlying connective tissue disorders such as Marfan syndrome are significant risk factors. The diagnosis should be suggested in the presence of suggestive skeletal features, ocular manifestations and cardiovascular abnormalities. Case Description:  We report a case of a 41-year-old male with a history of a drained spontaneous pneumothorax and an operated retinal detachment, presenting with exertional dyspnea and retrosternal chest pain. Clinical examination showed a normal heart rate with an asymmetrical arterial blood pressure, a diastolic murmur in the aortic area, associated with signs of congestive left heart failure. Vascular auscultation also showed added carotid murmur and abdominal murmur. Femoral pulses were decreased without signs of peripheric hypoperfusion. There were no neurological signs. Transthoracic echocardiography revealed a Stanford type A aortic dissection extending from the ascending aorta to the abdominal aorta, accompanied by severe aortic regurgitation and non-previously diagnosed dilated cardiomyopathy with a severe left ventricular dysfunction (ejection fraction of 27%) and elevated left ventricular filling pressures.  Clinical skeletal features, history and the cardiovascular manifestations were suggestive of Marfan syndrome. The patient was initiated on beta-blocker and diuretic therapy and was sent for an emergency surgical repair. Conclusion: This case underscores the importance of considering genetic connective tissue disorders in young patients presenting with aortic dissection, like Marfan syndrome in the presence of suggesting, ocular and cardiovascular manifestations. A prompt diagnosis can improve short-term prognosis and improves long-term prognosis by preventing other complications. Clinical Significance: Early recognition of Marfan syndrome in patients with suggestive clinical features is crucial for timely intervention, improved outcomes in acute aortic dissection and a better long-term prognosis.