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Primary cardiac amyloidosis
R Jeyamalar1, R Pathmanathan, S F Yap
1Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur.
Insights
Cardiac amyloidosis, a rare infiltrative heart disease, often presents as heart failure. Early suspicion based on ECG and echocardiogram findings is crucial for diagnosis, though biopsy remains definitive.
Area of Science:
- Cardiology
- Infiltrative Diseases
Background:
- Cardiac amyloidosis is an underdiagnosed cause of heart failure.
- It can mimic various other cardiac conditions, complicating diagnosis.
Observation:
- Suspect cardiac amyloidosis in heart failure patients with low voltage ECG and increased myocardial mass/echogenicity on echocardiogram.
- Mimics include restrictive/hypertrophic cardiomyopathy, constrictive pericarditis, coronary artery disease, and valvular heart disease.
Findings:
- Definitive diagnosis requires endomyocardial biopsy or biopsy of an involved organ in systemic amyloidosis.
- The condition is associated with a poor prognosis.
Implications:
- Highlights the importance of recognizing subtle diagnostic clues for cardiac amyloidosis.
- Emphasizes the need for definitive diagnostic methods like biopsy.
- Underscores the limited treatment options and poor outcomes, driving research for novel therapies.
Abstract:
Cardiac amyloidosis is an uncommon and often unrecognised cause of cardiac failure. It is an infiltrative disease that may mimic either a restrictive or hypertrophic cardiomyopathy, constrictive pericarditis, coronary artery disease or valvular heart disease. The diagnosis should be suspected in a patient with cardiac failure who has low voltage complexes on the electrocardiogram, in association with increased myocardial mass and echogenicity on the echocardiogram. The definitive diagnosis, however, can only be made by endomyocardial biopsy or biopsy of any involved organ in systemic amyloidosis. Prognosis is poor and treatment ineffective.