Multimodality imaging for diagnosis of subclinical hereditary transthyretin cardiac amyloidosis

We present a case of a patient with worsening visual acuity and dense vitreal debris who was found to have vitreal transthyretin amyloid (ATTR) infiltration. Cardiac workup, performed to identify systemic amyloidosis, demonstrated focal myocardial amyloid infiltration on pyrophosphate (PYP) scintigraphy and cardiac magnetic resonance (CMR), resulting in a diagnosis of subclinical ATTR cardiac amyloidosis (ATTR-CA). Patient was identified as a carrier of p.S70R mutation which results in an aggressive ATTR phenotype. Patient is tolerating transthyretin silencer therapy well. Through this case, we discuss the role of a multimodality imaging approach for the diagnosis of subclinical ATTR-CA.