Amyloid and Anderson-Fabry disease: Can there be a CMR phenotypic overlap?

A 53-year-old female had an atypical presentation of cardiac amyloidosis on cardiac magnetic resonance imaging. As opposed to the usual diffuse heterogenous late gadolinium enhancement (LGE) seen in cases of cardiac amyloidosis, the patient had localized LGE in the inferolateral left ventricular wall classically resembling Anderson Fabry's disease. However, other cardiac magnetic resonance features raised the suspicion for cardiac amyloidosis which was later confirmed by endomyocardial biopsy. This case highlights that cardiac amyloidosis can have atypical imaging features that may lead to incorrect diagnosis. Clinicians should maintain a high index of suspicion and pay attention to certain supportive findings such as atrial wall thickening, valve leaflet thickening, pericardial effusion, as well as abnormal strain pattern.

Learning objectives

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  Cardiac amyloidosis can have atypical imaging features and strain pattern that may lead to incorrect diagnosis.
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  Clinicians should maintain a high index of suspicion and pay attention to certain supportive findings such as atrial wall thickening, valve leaflet thickening, pericardial effusion, as well as abnormal strain pattern.