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Management

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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  • ophthalmology and cardiology review

  • early intervention with beta-adrenergic blocking agents and careful echocardiography examination may help to slow aortic dilatation and allow prophylactic aortic root replacement before dissections occur (1,2)
    • beta blocker treatment reduces dilatation of the aorta, and delays the need for corrective surgery by up to 5 years (3)
    • lowering the adult systolic blood pressure to 110 mmHg is recommended to reduce the strain on the aortic root (3)
    • there is evidence that angiotensin receptor blockade may prevent aortic dilatation (4)

  • approximately 50% of patients receiving surgery need a further operation within 10 years. Elective replacement of the aortic root is recommended in adults when the diameter reaches 5 cm or at an earlier stage in some high risk families. Aortic surgery in childhood is undertaken when the size of the aortic root is twice normal age (up to 5cm) and actively enlarging. Operative mortality is approximately 2% for elective replacement of the aortic root but increases five-fold when performed as an emergency following aortic dissection. Eighty-eight per cent of patients have a >5-year surgical survival in experienced hands

  • pregnancy causes high cardiac and aortic risk. After surgery there is an approximate 66% survival at 20 years

Notes:

  • regular aortic surveillance is essential in Marfan syndrome
    • traditionally taken the form of annual echocardiograms to monitor the rate of dilatation of the ascending aorta. However, many clinics now use MRI because of its greater accuracy, reproducibility and lower operator dependency (3)
    • is important, even after surgery, to continue to monitor the whole of the aorta on a regular basis since aneurysms can occur throughout the thoracic and abdominal aorta

Reference:

  1. ARC (February 2005). Topical Reviews - Heritable Collagen Disorders.
  2. Child AH and Birdwood G (Eds). The Marfan Syndrome: a clinical guide. London: British Heart Foundation, 1995.
  3. BHF Factfile (November 2009). Marfan syndrome.
  4. Brooke BS et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.N Engl J Med. 2008 Jun 26;358(26):2787-95.

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