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A 60-year-old with heart failure has preserved ejection fraction but severe diastolic dysfunction. Biopsy reveals amyloid deposits. Genetic testing confirms hereditary transthyretin amyloidosis.
Heterogeneous
- TNNI3, MYH7 (sarcomeric)
- DES (desmin)
- TTR (transthyretin amyloidosis)
- Diastolic dysfunction with preserved (or mildly reduced) EF
- Stiff ventricles, restrictive filling
- Biatrial enlargement
- Poor prognosis
- Echo shows preserved (or near-normal) ejection fraction and non-dilated ventricles with marked diastolic dysfunction and biatrial enlargement
- The key distinction is from constrictive pericarditis, resolved with cardiac MRI and invasive hemodynamics
- Workup targets the underlying cause: Tc-99m PYP scintigraphy for transthyretin amyloid, endomyocardial biopsy when infiltrative disease is suspected, and gene testing (TNNI3, MYH7, DES, TTR)
- Treat the underlying cause when one is identified (for example, TTR stabilizers or silencers in transthyretin amyloidosis)
- Cautious diuresis for congestion, rate control, and management of atrial fibrillation including anticoagulation
- Prognosis is generally poor; evaluate selected patients for heart transplant