Marfan Syndrome Complicated by Aortic Arch Aneurysm and Aortic Dissection: A Case Report from Congo

Abstract

Context and Aim: Marfan syndrome is a transmissible genetic disease of the connective tissue that is rarely encountered in Congo and in sub-Saharan African countries. Its cardiovascular complications can be life frightening. The management of that disease is still limited in our country because of a lack of technical capacity in cardiovascular surgery. The aim of this clinical report is to show the interest of echocardiography and especially angioscanner as the main technique in the diagnosis of the severity of this disease, elaborate a literature review, but also to highlight the difficulties encountered in the management of that affection in our countries. Observation: The authors report the medical observation of a 48-year-old adult with a history of cataract of the left eye and a subluxation of the lens for which he underwent surgery in 2016, without any etiology being found. He is a smoker at a rate of 6 packs yearly. He consulted for progressively worsening dyspnea and constrictive mediosternal pain. The clinical examination revealed a moderate alteration of the general state, apyrexia, a blood pressure of 140/90 mmHg, a SPO2 of 97% in ambient air, a respiratory frequency of 32 cycles/min, signs of left ventricular insufficiency, a diastolic murmur of aortic insufficiency of intensity 4/6th, a long-limbed morphotype with a wingspan superior to the height and a kyphoscoliosis. Chest X-ray showed cardiomegaly with a cardiothoracic ratio of 58%, a highly dilated and uncoiled aorta, convexity of the left inferior arch, and venocapillary hypertension and a quiet alveolar-interstitial pulmonary oedema. The ECG was in sinus rhythm and showed a poor R-wave progression in anteroseptal leads. Echocardiography showed significant aortic root dilatation up to 72.6 mm and aortic regurgitation grade IV. Angioscanner showed a dissected aortic aneurysm and areas of emphysema located in the lungs. The medical treatment was palliative with beta blocker and angiotensin II receptor antagonists, diuretics and analgesics. The patient is awaiting surgery. Conclusion: Marfan syndrome is a genetic disease of the connective tissue that can manifest itself by cardiovascular, pulmonary, orthopedic, ophthalmological and cutaneous signs. Echocardiography and especially angioscanner are the tools of choice for the diagnosis and follow-up of this condition. Surgery is reserved for serious complications of this condition.