Aortic aneurysm with valvular insufficiency: Is it due to Marfan syndrome or hypertension? A case report and review of literature

Aortic aneurysm can result from both Marfan syndrome (MFS) and hypertension. Hypertension is more easily detected by the use of ubiquitous sphygmomanometer but MFS diagnosis requires a summation of a set of clinical features, including increased cardiac output from aortic regurgitation. A common complication of aortic aneurysm may result in apparent elevation in systolic pressure in a MFS patient with aortic root dilatation and regurgitation. Thus a patient with MFS presenting with aortic regurgitation may be misdiagnosed as having hypertensive heart disease. Clinical case presentation of a 47-year-old woman referred to the cardiology unit with the diagnosis of aortic aneurysm with regurgitation secondary to hypertension was found to have MFS. Relevant literature on diagnostic criteria of MFS and differences in aortic root disease secondary to MFS and that secondary to hypertension was reviewed. Physicians should have a high index of suspicion and consider MFS as a differential diagnosis of aortic aneurysm, especially in younger patients.