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Number 08-23 A tricky diagnostic challenge:

Case from: Anna Herrey, Kikkiri Naresh, Julian Gillmore, Chiara Bucciarelli-Ducci, Jaspal Kooner. Imperial College Healthcare, Royal Brompton Hospital and University College London, UK

History: A man in his 40s presenting to respiratory medicine with 6 months breathlessness and hemoptysis.
Past medical history: athleticism, proteinuria, hematuria, carpal tunnel syndrome and sinusitis. Medication: No current medication. Respiratory/general investigations: Detailed work up negative apart from mild anaemia*
Cardiology: ECG: see below, Echo: concentric LVH, good systolic function, grade 2 diastolic dysfunction ETT: positive for ischemia (but note rest ECG, centre), so angiography: Angiography: normal. The patient then presents to ER with the tachycardia below right: EP study non-inducible.
Question: What is the diagnosis? Where to next?

*CXR, V:Q scan, bronchoscopy normal.
U+E/coag/LFT’s/CRP/ESR/ANA/ANCA/antiphospholipid/complement/a1-AT/GBM Ab/RF: normal

Answer: CMR

Cine CMR: Marked biventricular long axis reduction with preserved radial function. Mild concentric LVH.
Contrast CMR: Remarkable, extensive LGE in a non-ischemic pattern, most prominent subendocardially
CMR diagnosis: Likely cardiac amyloidosis

Subsequent investigation: Cardiac biopsy (right) showed green birefringence on Congo red staining confirming cardiac amyloid (note thickened arteriolar wall). A bone marrow biopsy showed plasma cells (left) and Lambda light chains (middle), and urine showed excessive lambda light chains.

Management and follow-up: ‘light’ chemotherapy (prednisolone /melphalan). Serial echo demonstrated progression to restrictive physiology and systolic dysfunction. Work-up for cardiac transplant commenced with a plan for intensive chemo & stem cell transplant, but events overtook this plan with end stage renal and cardiac failure.

Conclusion: CMR frequently solves the most complex diagnostic conundrums, here cardiac amyloidosis, although in this case, the outcome was poor.

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