Heart of the Matter: Decoding the Underdiagnosed Cardiac Amyloidosis

Cardiac amyloidosis, a rare disorder marked by toxic amyloid protein deposition in the myocardium, contributes significantly to restrictive cardiomyopathy. We present an 85-year-old female diagnosed with amyloid transthyretin (ATTR) cardiac amyloidosis, emphasizing the under-recognition of this condition. The pathophysiology of cardiac amyloidosis involves misfolded protein accumulation, which impairs myocardial function. Differentiating AL and ATTR is crucial, with ATTR predominance. Diagnosis relies on echocardiography, cardiac magnetic resonance, nuclear imaging, and biomarker testing. A positive pyrophosphate (PYP) scan, compatible echocardiographic features, and the absence of systemic myeloma signs diagnose ATTR amyloidosis. Management includes heart failure treatment, arrhythmia control, and disease-modifying strategies like Tafamidis, Inotersen, and Patisiran. Genotyping guides prognostic and therapeutic considerations. Recognizing cardiac amyloidosis as an underlying cause of heart failure with preserved ejection fraction necessitates collaboration between cardiology and hematology. Improved awareness, innovative diagnostics, and targeted therapies are crucial to reduce diagnostic delays and enhance outcomes.