Amyloidosis is characterized by the precipitation of insoluble, misfolded, fibrillary proteins in the extracellular matrix in the form of beta-pleated sheets, leading to the loss of normal tissue architecture and ultimately organ dysfunction. The manifestations of the disease are due to the noxious effects of aggregated proteins (Amyloid) deposited in the tissues. Amyloidosis involves multiple organs, including the heart, kidneys, liver, soft tissues, peripheral and/or autonomic nervous system, and gastrointestinal tract. Cardiac amyloidosis is one of the myriad manifestations of systemic amyloidosis. It is characterized by extracellular deposition of amyloid fibrils, leading to progressive cardiac failure. We report a case of a 54-year-old male, who presented to us with a history of exertional dyspnea for the past 2 years with left ventricular systolic and diastolic dysfunction unexplained by the coronary anatomy. The findings on cardiac imaging led us to the suspicion of cardiac amyloidosis. Further, evaluation with an abdominal fat pad and rectal mucosal biopsy confirmed amyloidosis.
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Papani et al. (2024) studied this question.
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