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Systemic Amyloidosis With Probable Cardiac Involvement: Diagnostic Approach in a Resource-Limited Setting: A Case
Malegna Temesgen Garuma1, Yonatan Debebe Regassa2, Sifessa Dessalegn Demshasha1
1Department of Internal Medicine St. Paul's Hospital Millennium Medical College Addis Ababa Ethiopia.
Insights
Systemic amyloidosis, a heart condition, is often missed in resource-limited areas. This case shows how basic tests and biopsy can diagnose cardiac involvement, improving patient outcomes.
Area of Science:
- Cardiology
- Pathology
- Internal Medicine
Background:
- Systemic amyloidosis is an infiltrative cardiomyopathy frequently underdiagnosed, especially in resource-limited settings.
- Limited access to advanced diagnostics hinders timely diagnosis and subtyping of amyloidosis.
Purpose of the Study:
- To present a case of systemic amyloidosis with cardiac involvement diagnosed in a resource-limited setting.
- To highlight an integrated diagnostic approach using basic clinical findings and minimally invasive biopsy.
Main Methods:
- A 57-year-old man with heart failure with preserved ejection fraction (HFpEF) underwent clinical evaluation, electrocardiography, and echocardiography.
- An abdominal fat pad biopsy with Congo red staining was performed to confirm amyloid deposition.
- Diagnosis was made despite unavailability of advanced tests like serum protein electrophoresis and free light-chain assay.
Main Results:
- Electrocardiography showed low-voltage QRS complexes, while echocardiography revealed left ventricular hypertrophy and diastolic dysfunction.
- A discrepancy between ECG and echo findings suggested infiltrative cardiomyopathy.
- Abdominal fat pad biopsy confirmed amyloid deposition, establishing the diagnosis of systemic amyloidosis with cardiac involvement.
Conclusions:
- Basic clinical data, ECG, echocardiography, and biopsy can diagnose cardiac amyloidosis in resource-limited settings.
- Amyloid subtyping is crucial for targeted therapy but often unavailable.
- Early recognition and appropriate management are key to improving outcomes for patients with cardiac amyloidosis.
Abstract:
Systemic amyloidosis, which may involve the heart as an infiltrative cardiomyopathy, is frequently underdiagnosed, particularly in low-resource settings where access to advanced imaging and laboratory investigations for amyloid subtyping is limited. We report a case of a 57-year-old man from Ethiopia who presented with progressive symptoms of heart failure with preserved ejection fraction (HFpEF). Electrocardiography demonstrated low-voltage QRS complexes with poor R-wave progression, while transthoracic echocardiography revealed concentric left ventricular hypertrophy with severe diastolic dysfunction. The marked discordance between the electrocardiographic and echocardiographic findings raised suspicion of infiltrative cardiomyopathy, specifically systemic amyloidosis with probable cardiac involvement. Advanced diagnostic modalities, including serum protein electrophoresis and free light-chain assay, were unavailable because of financial constraints; however, an abdominal fat pad biopsy with Congo red staining confirmed amyloid deposition. Critically, amyloid subtyping could not be performed. The patient was managed with optimized diuretic therapy, resulting in symptomatic improvement. This case highlights the diagnostic approach integrating basic clinical findings, electrocardiography, echocardiography, and minimally invasive biopsy to confirm systemic amyloidosis with probable cardiac involvement in resource-limited settings. Amyloid subtyping remains essential for disease-specific therapy. Early recognition and careful diagnostic interpretation are critical for guiding appropriate management and improving outcomes.
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