Marfan’s Syndrome

History

• Cardiovascular
  • Do you have any chest pain?
  • Do you have any back pain?
  • Do you get breathless when you walk?
  • Do you wake up in the middle of the night feeling breathless?
  • How many pillows do you sleep on at night?
  • Have you ever blacked out suddenly?
• Musculoskeletal
  • Have you always been taller than your peers?
  • Do you find that you have very long fingers?
  • Has anyone ever commented that you are double jointed?
  • Have you noticed that your chest is unusually shaped?
  • Have you ever had any problems with your back?
  • Did you ever have to wear a back brace when you were younger?
• Ocular abnormalities
  • Have you noticed any problems seeing things?
  • Has your vision been blurry?
  • Do you need to wear glasses to see things?
  • Have you ever needed laser treatment in your eye?
• Family history
  • Has anyone in your family ever experienced similar symptoms?
  • Has anyone in your family ever had heart of lung operations?
  • Has anyone in your family ever blacked out suddenly?
  • Has anyone in your family ever passed away suddenly?

Examination

• Inspection
  • Height and arm span (dolichostenomelia, disproportionate height and arm span)
  • Marfan’s facies
    • Retrognathia
    • Malar hypoplasia
    • Down-slanting palpebral fissure
    • Dolichocephaly (reduced head width/length ratio)
    • Endophthalmos
    • Bossing of the frontal eminences
    • Prominent supraorbital ridges
  • Eyes
    • Iridodonesis (vibration of the eyes with movement) – suggestive of ectopia lentis
    • Overt lens dislocation (upward and outward)
    • Blue sclerae
  • High arched palate
  • Chest
    • Pectus excavatum / pectus carinatum
    • Scars
      • Lateral thoracotomy – previous lobectomy for pneumothorax
      • Midline sternotomy – aortic valve replacement / aortic root replacement
    • Cardiac device (e.g. permanent pacemaker)
  • Spine – Kyphoscoliosis
  • Feet – pes planus
• Hands
  • Arachnodactyly (overgrowth of the fingers)
  • Steinberg / thumb sign – distal phalanx of the thumb fully extends beyond the ulnar border of the hand when folded across the palm
  • Walter-Murdoch / wrist sign – the thumb overlaps the distal phalanx of the little finger by at least 1cm when wrapped around the contralateral wrist
  • Hypermobile joints
• Cardiovascular
  • Prosthetic valves
  • Mitral valve prolapse
  • Mitral regurgitation
  • Aortic regurgitation
• Respiratory
  • Tracheal deviation
  • Signs of previous pneumonectomy / lobectomy

Investigations

• Electrocardiogram: cardiac conduction defects
• Chest radiograph: cystic lung disease, pneumothorax
• Transthoracic echocardiogram
  • Measurement of aortic root diameter
  • Look for mitral valve prolapse
  • Assess severity of mitral regurgitation
• Magnetic resonance imaging of the lumbosacral spine for dural ectasia
• Slit lamp examination for lens dislocation

Management

• Can be managed as an outpatient unless there are warning signs of aortic dissection / decompensated valvular heart disease
• Multidisciplinary team approach
• Patient education on disease, warning symptoms
  • Need to avoid contact sports and strenuous activity
• Genetic counselling (autosomal dominant pattern of inheritance, mutation in fibrillin gene)
• Referral to Cardiology for follow-up of aortic root
  • Life-long beta blockade to reduce the rate of aortic root dilation
  • Consider addition of angiotensin II receptor blocker (e.g. losartan) to slow rate as well
  • Indications for aortic root replacement
    • Aortic root diameter ≥ 50mm
    • Aortic root diameter 45 – 50mm and family history of aortic dissection / rapid dilation
• Referral to ophthalmology for annual follow-up and screening for lens dislocation

Summary

Sir, this patient has Marfan’s syndrome. He is very tall, with an increased arm span : height ratio. There are facial features of dolichocephaly and maxillary hypoplasia, with evidence of kyphoscoliosis. On examination of the hands, there is arachnodactyly with a positive thumb and wrist sign. On examination of the chest, there is a midline sternotomy scar and a crisp, metallic S2, indicating a previous aortic valve replacement; this is possibly prophylactic or as a consequence of aortic dissection. There are also lateral thoracotomy scars, which may indicate previous cystectomy or lobectomy for associated cystic lung disease or pneumothoraces.

In summary, this patient has Marfan’s syndrome, with evidence of previous aortic valve replacement. He requires echocardiography and genetic counselling. A possible differential diagnosis is homocystinuria, although this is typically not associated with aortic root dilation. I would like to assess his mental status.