Cardiac Amyloidosis Differential Diagnoses

Updated: Mar 25, 2020
  • Author: Gyanendra K Sharma, MD, FACC, FASE; Chief Editor: Terrence X O'Brien, MD, MS, FACC  more...
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Diagnostic Considerations

Owing to the complexity of, and multisystem involvement in, cardiac amyloidosis, clinicians need to have a high index of suspicion for this condition and its varied presentation, [30] particularly in patients who present with heart failure and preserved ejection fraction. [38] Early recognition and treatment is essential in stopping the disease process before irreversible damage has occurred and improving survival. [38] Diagnostic evaluation includes findings on physical examination in conjunction with results of cardiac biomarker studies, noninvasive tests, and myocardial biopsy (as needed). Identification of the type of amyloidosis requires genetic studies. [30]

Clinicians should also consider infiltrative cardiomyopathy (ie, glycogen storage disease, Fabry disease, Hurler disease, and others) when evaluating patients with suspected cardiac amyloidosis.

Differential Diagnoses