Giant Aortic Root Aneurysm in Marfan’s Syndrome

J INVASIVE CARDIOL 2021;33(3):E231-E232. doi:10.25270/jic/20.00130

Key words: aortic aneurysm, aortic regurgitation, cardiac imaging, contrast-enhanced computed tomography, Marfan’s syndrome

A 25-year-old man came to our clinic with complaints of exertional palpitations and dyspnea. He had skeletal features suggestive of Marfan’s syndrome, including increased arm span, wrist and thumb signs, kyphoscoliosis, and pectus carinatum. Examination revealed a wide pulse pressure, cardiomegaly, and early diastolic murmur of aortic regurgitation. The echocardiogram was peculiar in showing a massively dilated aortic root, apparently compressing the surrounding cardiac structures (Figures 1A and 1B, Video 1). There was severe aortic regurgitation with a dilated and dysfunctional left ventricle. Contrast-enhanced computed tomography (Figures 1C and 1D) confirmed aneurysmal dilation of the aortic root and the proximal part of the ascending aorta. The largest transverse diameter of the aorta was 14.2 cm at the level of the sinuses of Valsalva. No dissection flap or intramural hematoma was observed. The patient was advised to undergo Bentall procedure for replacement of the aortic valve, aortic root, and ascending aorta. He was, however, lost to follow-up.

Marfan’s syndrome is a connective tissue disorder with autosomal-dominant inheritance. Patients have a predisposition for progressive aortic root and ascending aortic dilation, and should undergo periodic echocardiographic monitoring. Medical therapy with beta-blockers and angiotensin-receptor blockers may decrease the rate of aortic dilation, but regular surveillance and timely surgery is vital to the management. Ascending aortic aneurysm or dissection may be the first presentation in an undiagnosed patient. Aortic aneurysms larger than 10 cm are called giant aneurysms and carry a prohibitive risk of rupture and dissection, mandating early intervention.

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From the Department of Cardiology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Disclosure: The authors have completed and returned the ICMJE Form for Disclosure of Potential Conflicts of Interest. The authors report no conflicts of interest regarding the content herein.

The authors report that patient consent was provided for publication of the images used herein.

Manuscript accepted April 9, 2020.

Address for correspondence: Professor H.S. Isser, Department of Cardiology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi-110029, India. Email: drhsisser@gmail.com