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Case History :

This 20-year-old female with a history of Marfan syndrome is asymptomatic and enjoys general good health. She was planning to get married in a few months and wanted to begin a family. Currently she was taking Nadolol 80 mg daily.

On examination she had the typical appearance typical of Marfan syndrome and BP 90/70 mmHg Pulse 62/minute and regular. On auscultation nonejection click was heard at the apex and there was a Grade 1 murmur of mitral regurgitation.

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Investigation Reports :

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Discussion :

A 20 year female with Marfan syndrome wanted to begin a family. We would strongly advise this woman not to become pregnant because of her 55 mm aorta at the level of the sinuses of Valsalva. While we don't have precise risk numbers, the risk of aortic dissection or rupture during the course of pregnancy would be substantial. Beta-blockers should be prescribed for patients with Marfan syndrome.

Most centers would agree that elective surgery to replace the ascending aorta should be undertaken once a diameter of 55 mm has been reached. After elective repair, pregnancy could be recommended on medical grounds.

This young woman went to surgery. Her aortic valve was bicuspid and both cusps were over-stretched. The ascending aorta was transected 2 cm below the in nominate artery. The ascending aorta was replaced with a 26 mm homograft in order to fit a 28-30 mm aortic annulus. The coronary arteries were reimplanted into the homograft.

The mitral valve was inspected and had typical features of mitral prolapse. The posterior leaflet was entirely detached. The middle scallop was resected and the aneurismal portions of the lateral and medical scallops were excised. The mitral annulus was plicated in two areas and the resected margins approximated. A 32 mm Duran ring was secured. The patient clearly should be offered information not only about her own health situation but also about the implications of transmitting this defect to her children.