|

Marfan Syndrome

Last updated:

Overview

Marfan’s syndrome (MFS) is an autosomal dominant connective tissue disorder due to mutations in the FBN1 gene on chromosome 15 that codes for the polypeptide fibrillin-1.

Although it is a severe, chronic, and life-threatening disease, most patients with MFS who receive optimal medical care have a near-normal life expectancy.

Presentation

General features

  • Tall stature
  • Wide arm span
  • Arachnodactyly
  • Pes planus
  • Pectus excavatum
  • Scoliosis
  • Joint hypermobility

Cardiovascular features

Respiratory features

Facial features

  • Long face
  • High, arched palate
  • Enophthalmos
  • Down-slanting palpebral fissures
  • Malar hypoplasia

Eye features

  • Lens dislocation
  • Closed-angle glaucoma
  • High myopia

Differential Diagnoses

Ehlers-Danlos syndrome

  • Joint hypermobility is the most common presenting complaint
  • Marfanoid features (such as tall stature, pectus excavatum, and arachnodactyly) are not present

Klinefelter (XXY) syndrome

  • No lens dislocation
  • No aortic aneurysm
  • Hypogonadism
  • Learning disabilities present

Investigations

First investigations to order are:

  • Echocardiography:
    • May show aortic regurgitation/aortic root dilation/mitral regurgitation/mitral valve prolapse/ascending aortic dissection
  • CT thorax/MRI thorax:
    • May show features mentioned in echocardiography
  • Slit-lamp eye exam with intra-ocular pressure measurement:
    • May show dislocated lens
    • May show increased intraocular pressure
  • Abdominal ultrasound:
    • May show an abdominal aortic aneurysm
    • May show aortic dissection of descending aorta
  • Chest x-ray:
    • May show pneumothorax
  • CT abdomen/MRI abdomen:
    • May show features mentioned in abdominal ultrasound
  • Blood screening for fibrillin-1 (FBN1) gene mutation:
    • Positive in 99% of patients
    • Must be interpreted in correlation to information from clinical examination

Management

Management involves treating complications such as aortic root dilation, dislocated lenses, kyphosis and severe scoliosis.

Monitoring

Patients have regular echocardiography and CT scans to look for complications of MFS

Patient Advice

  • Excess strain should be avoided to prevent precipitation of an acute aortic dissection
  • Patients should seek urgent ophthalmological help if they have any ocular symptoms

Complications

  • Aortic dissection or rupture
  • Chronic aortic dissection
  • Symptomatic aortic regurgitation
  • Pneumothorax
  • Severe mitral regurgitation
  • Heart failure
  • Symptomatic hernias
  • Infective endocarditis

Prognosis

  • The main cause of death is cardiovascular disease and other vascular complications
  • Early intervention has improved prognosis significantly

Author