Heart Failure With Preserved Ejection Fraction: A Case of Cardiac Amyloidosis and the Importance of Echocardiography in the Diagnostic Workup of Infiltrative Disease

Cardiac amyloidosis (CA) is an uncommon and likely underdiagnosed infiltrative cardiomyopathy that results from extracellular deposition of misfolded proteins. Although considered rare, its true prevalence is believed to be higher than currently recognized due to its nonspecific presentation and diagnostic complexity. Echocardiography remains a cornerstone of the initial evaluation, often providing the earliest clues that suggest underlying CA. Multiple subtypes of CA exist, each posing unique diagnostic challenges and requiring distinct treatment strategies. We describe a previously healthy patient who presented with progressive anasarca and new-onset diabetes mellitus. Initial workup was unrevealing; however, an echocardiogram later demonstrated features concerning for CA, which were promptly identified by an astute clinician. This recognition led to a targeted diagnostic workup and ultimately confirmed the diagnosis. This case report describes a previously healthy patient who developed progressive anasarca and new-onset diabetes. After an echocardiogram was performed for further evaluation, characteristic features of CAs were identified by an astute clinician, leading to appropriate diagnostic testing.