Cardiac Amyloidosis-Challenging Diagnosis and Unclear Clinical Picture
Sylwia Kozak1, Krzysztof Ulbrich1, Maciej Migacz2
1Student Scientific Society at the Department of Internal, Autoimmune and Metabolic Diseases, School of Medicine, Medical University of Silesia, 40-752 Katowice, Poland.
Insights
Cardiac amyloidosis (CA) is a rare heart disease caused by amyloid protein buildup. Early diagnosis through clinical suspicion and echocardiography is crucial for timely, targeted treatment and improved patient outcomes.
Area of Science:
- Cardiology and internal medicine, focusing on systemic diseases affecting the heart.
Background:
- Cardiac amyloidosis (CA) is a rare systemic disease characterized by amyloid protein deposition in cardiac structures.
- Key subtypes include light chain (AL), amyloid A (AA), and transthyretin (ATTR) amyloidosis, necessitating subtype identification for targeted therapy.
Observation:
- A 65-year-old woman presented with severe exercise intolerance, reduced breath sounds, ascites, and lower extremity edema.
- Echocardiographic findings raised suspicion for CA, prompting further diagnostic investigations.
Findings:
- The case highlights the clinical presentation of cardiac amyloidosis.
- Diagnostic pathway involved clinical suspicion, echocardiography, and subsequent confirmation.
Implications:
- Increased clinician awareness of CA symptoms can reduce diagnostic delays.
- Timely diagnosis and subtype identification are essential for initiating appropriate, potentially life-saving treatments.
Abstract:
Cardiac amyloidosis (CA) is a rare systemic disease determined by the extracellular deposition of amyloid protein in the heart. The protein can accumulate in any part of the heart: myocardium, vessels, endocardium, valves, epicardium and parietal pericardium. The types of CA include the following types: light chain (AL), amyloidosis AA (Amyloid A) and transthyretin (ATTR). The detection of specific subtypes remains of great importance to implement the targeted treatment. We present the case of a 65-year-old woman, who was admitted with severe deterioration of exercise capacity, a bilateral reduction of physiological vesicular murmur, ascites and edema of lower extremities. CA was suspected due to echocardiographic examination results, which led to further examination and final diagnosis. The aim of this study is to improve the disease awareness among clinicians and shorten the delay between the first symptoms and the diagnosis establishment resulting in a better outcome.
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