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 cond...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2023-12, Vol.15 (12), p.e50527
Main Authors: Kaiser, Michael E, Lewis, Toni-Ann J
Format: Article
Language:English
Subjects:
Amyloidosis
Biomarkers
Cardiac arrhythmia
Cardiology
Cardiomyopathy
Dyspnea
Ejection fraction
Heart failure
Hematology
Internal Medicine
Medical prognosis
Multiple myeloma
Mutation
Patients
Proteins
Scintigraphy
Ultrasonic imaging
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.50527