Moffitt AM Report Pearls: infiltrative LFTs, infiltrative cardiomyopathy and a quick word on Fabry’s disease

Clinical exam pearl from YY: an S3 heart sound is usually associated with heart failure, but can be confused with a pericardial knock that occurs with pericardial constriction (pericardial knocks tend to occur slightly earlier than a regular S3)

Usual DDx for systemic causes of infiltrative cardiomyopathy (see attached article from JACC 2010 for longer ddx and discussion)

  • Amyloidosis
  • Sarcoidosis
  • Hemochromatosis
  • Aarious storage diseases (e.g. Fabry’s) and other genetic abnormalities like mucopolysaccharidoses

Infiltrative pattern of LFTs: elevated alk phos/GGT with normal AST/ALT/bili

  • Amyloidosis
  • Sarcoidosis
  • Lymphoma (and sometimes other metastatic malignancy may not associated with AST/ALT elevation)
  • Tuberculosis

Fabry’s disease: lysosomal storage disease, X-linked, can go undetected later into life. Think of neuropathic/limb pain, angiokeratomas or telangiectasias on the skin, kidney disease and cardiac involvement.

Evernote link: http://www.evernote.com/l/APhtalIc9ktFbqHvmVH6URZ45dHORrb8jlM/

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One thought on “Moffitt AM Report Pearls: infiltrative LFTs, infiltrative cardiomyopathy and a quick word on Fabry’s disease”

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