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Marfan Syndrome P005

Last amended 
1 April 2021
Current RMA Instruments
Reasonable Hypothesis SOP
25 of 2015
Balance of Probabilities SOP
26 of 2015
Changes from previous Instruments

SOP Bulletin 179

ICD Coding
  • ICD-9-CM Codes: 759.82
  • ICD-10-AM Codes: Q87.4
Brief description

This is an inherited disorder of connective tissue.  It has variable manifestations, most commonly affecting the heart, eyes, blood vessels and skeleton.  People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes and lax joints.

Confirming the diagnosis

The diagnosis is based on clinical features, with diagnostic criteria typically used to establish the diagnosis and differentiate the condition form other disorders.  Genetic testing will usually be undertaken.

The relevant medical specialist is a paediatrician or physician.

Additional diagnoses covered by SOP
  • Nil
Clinical onset

The condition often manifests in childhhod but may not present until adulthood.  The skeletal features tend to be obvious.  Other presentations can include: cardiac symptoms (asociated with aortic root dilatation) such as shortness of breath, fatigue, palpitations; lens dislocation in the eye; and spontaneous pneumothorax.

Clinical worsening

There is no specific treatment for Marfan’s syndrome.  The manifestations of Marfan’s syndrome such as the cardiac dilatation/dissection and eye dislocation need to be monitored.  Progression of these manifestations can be slowed with appropriate treatment.