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Updated: Sep 16, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
How to Recognize Cardiac Amyloidosis: Explaining With Clinical Case.
Shafag Mustafaeva1, Uzeyir Rahimov1, Emin Karimli1
1Department of Cardiology, Baku Medical Plaza, Baku, Azerbaijan.
Cardiac amyloidosis involves amyloid protein buildup in the heart, potentially causing heart failure. Early diagnosis of this rare condition is crucial for improving patient outcomes.
Area of Science:
- Cardiology
- Internal Medicine
- Pathology
Background:
- Cardiac amyloidosis is a rare systemic disease characterized by extracellular amyloid protein deposition in the heart.
- Amyloid accumulation can affect cardiac valves, endocardium, myocardium, and pericardium, impairing normal heart function.
- This condition can lead to severe complications, including heart failure, arrhythmias, and sudden cardiac death.
Purpose of the Study:
- To enhance clinicians' understanding of cardiac amyloidosis.
- To highlight the importance of timely diagnosis in improving patient prognosis.
- To present a case illustrating the clinical presentation and diagnostic considerations.
Main Methods:
- Case report presentation of a 57-year-old female patient.
- Review of clinical presentation including exertional dyspnea, hypotension, edema, and proteinuria.
- Discussion of diagnostic modalities such as electrocardiogram and echocardiography.
Main Results:
- The patient presented with symptoms suggestive of cardiac dysfunction and systemic involvement.
- Diagnostic evaluation was initiated based on clinical suspicion.
- The case underscores the diagnostic challenges and clinical manifestations of cardiac amyloidosis.
Conclusions:
- Early recognition and diagnosis of cardiac amyloidosis are critical for effective management.
- Minimizing the delay between symptom onset and diagnosis can significantly improve patient outcomes.
- This case report serves as an educational tool for healthcare professionals managing suspected cardiac amyloidosis.
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