Answer 1 Marfan syndrome. The history and physical examination is consistent with diagnosis of aortic regurgitation. In Marfan syndrome, syphilis, and Takayasu’s arteritis, aortic regurgitation is caused by dilatation of the aortic root. Dilatation causes the aortic annulus to stretch, leading to incomplete opposition of valve leaflets during the aortic valve closure and resulting in regurgitation of blood from the aorta into the left ventricle. In rheumatic heart disease and bicuspid aortic valve disease (which are more common causes of aortic regurgitation), the valve leaflets are abnormal and aortic root is normal. Early diastolic murmur caused by aortic regurgitation is better heard on the right side of the sternum if the regurgitation results from aortic dilatation (as is seen in the patient presented here) and best heard on the left side due if the cause is abnormal valves. Therefore, rheumatic heart disease and bicuspid valve disease can be ruled out. Of the remaining conditions, Marfan syndrome is the most likely cause of the patient’s aortic regurgitation, which is one of the major signs that indicate this diagnosis. In addition, there is family history of sudden death, which may have been due to aortic rupture. Prior to the widespread use of penicillin, syphilis was an important cause of ascending aortic aneurysm due to aortitis. Finally, Takayasu’s arteritis is a chronic inflammatory vasculitis predominantly affecting the aortic arches and their branches. In Takayasu’s arteritis, aortic regurgitation can be caused by aortic root dilatation due to hypertension or by extension of aortitis to the ascending aorta. However, Takayasu’s arteritis is more common in women from Asian countries and is usually associated with absent or diminished pulses in the limbs, which makes this condition unlikely to be the cause of this patient’s symptoms Click here to return to the questions

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