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General appearance

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The general appearance of a patient may be characteristic of certain inherited syndromes which are associated with cardiovascular malfunction. Such syndromes include:

  • Down's syndrome (PDA, ASD & VSD)
  • Marfan's syndrome (aortic dissection, valve disease)
  • Turner's syndrome (aortic coarctation & aortic stenosis)

Other important syndromes to spot are:

  • ankylosing spondylitis (aortic regurgitation)
  • acromegaly (hypertension & cardiomegaly)

The patient should also be inspected for the presence of:

  • dyspnoea
  • cyanosis
  • jaundice
  • cachexia

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