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A

Marfan Disease and Stroke


Learning objectives

  • What is Marfan Syndrome
  • Appropriate investigations
  • Managing the patient

Introduction

  • Marfan syndrome is an autosomal dominant inherited disorder of the connective tissue
  • Incidence of around 1 in 9800 and 27% of cases arise from new mutation.

Aetiology

  • Weakness of the blood vessels, especially the aorta
  • Progressive dilatation of the aortic root leading to aortic regurgitation, dissection, or rupture
  • Possible association between Marfan syndrome and intracranial aneurysms

Clinical

  • Classic triad of ocular, skeletal, and cardiovascular systems
  • Thin tall stature, pectus carinatum or excavatum, scoliosis
  • Joint hypermobility, arachnodactyly, pes planus
  • A high arched palate, and ectopia lentis
  • Aortic root dilation, usually maximal at the sinus of Valsalva
  • Associated with aortic valve incompetence
  • Mitral valve prolapse with incompetence may be significant

Investigations

  • Assessment of family history, affected relatives Fibrillin 1 mutation testing if indicated
  • Transthoracic echo
  • Diagnosis by Ghent diagnostic nosology

Management

  • Stroke is uncommon
  • Prophylactic aortic surgery should be considered when the aortic root at the Sinus of Valsalva exceeds 5cm

References

  • Marfan syndrome: clinical diagnosis and management.

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