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Machine Learning Approaches in Diagnosis, Prognosis and Treatment Selection of Cardiac Amyloidosis
Alessandro Allegra1, Giuseppe Mirabile1, Alessandro Tonacci2
1Division of Hematology, Department of Human Pathology in Adulthood and Childhood "Gaetano Barresi", University of Messina, 98125 Messina, Italy.
Insights
Early diagnosis of cardiac amyloidosis is challenging due to similar symptoms to other heart conditions. This review explores artificial intelligence and machine learning for improved cardiac amyloidosis detection.
Area of Science:
- Cardiology
- Medical Imaging
- Artificial Intelligence
Background:
- Cardiac amyloidosis is a rare restrictive cardiomyopathy caused by amyloid protein deposition, leading to impaired heart function.
- Diagnosis is often delayed due to overlapping symptoms with more common hypertrophic diseases, leading to underdiagnosis.
- Accurate differentiation of amyloidosis subtypes is crucial for effective therapeutic strategies.
Purpose of the Study:
- To review current diagnostic approaches for cardiac amyloidosis.
- To assess the role of artificial intelligence (AI) and machine learning (ML) in improving early detection.
- To highlight the potential of automated algorithms in overcoming diagnostic challenges.
Main Methods:
- Review of existing literature on cardiac amyloidosis diagnosis.
- Analysis of clinical, electrocardiographic, and imaging findings.
- Evaluation of AI and ML computational techniques for data analysis and pattern recognition.
Main Results:
- Traditional diagnostic work-up involves identifying suggestive clinical and imaging features, often requiring histological confirmation.
- Automated diagnostic algorithms, particularly ML, can extract salient information from raw data without extensive pre-processing.
- AI offers a promising avenue to overcome the diagnostic delay associated with cardiac amyloidosis.
Conclusions:
- Early and accurate diagnosis of cardiac amyloidosis remains a significant clinical challenge.
- AI and ML techniques show potential to enhance diagnostic accuracy and timeliness.
- Further research into AI-driven diagnostic tools is warranted to improve patient outcomes and prognosis.
Abstract:
Cardiac amyloidosis is an uncommon restrictive cardiomyopathy featuring an unregulated amyloid protein deposition that impairs organic function. Early cardiac amyloidosis diagnosis is generally delayed by indistinguishable clinical findings of more frequent hypertrophic diseases. Furthermore, amyloidosis is divided into various groups, according to a generally accepted taxonomy, based on the proteins that make up the amyloid deposits; a careful differentiation between the various forms of amyloidosis is necessary to undertake an adequate therapeutic treatment. Thus, cardiac amyloidosis is thought to be underdiagnosed, which delays necessary therapeutic procedures, diminishing quality of life and impairing clinical prognosis. The diagnostic work-up for cardiac amyloidosis begins with the identification of clinical features, electrocardiographic and imaging findings suggestive or compatible with cardiac amyloidosis, and often requires the histological demonstration of amyloid deposition. One approach to overcome the difficulty of an early diagnosis is the use of automated diagnostic algorithms. Machine learning enables the automatic extraction of salient information from "raw data" without the need for pre-processing methods based on the a priori knowledge of the human operator. This review attempts to assess the various diagnostic approaches and artificial intelligence computational techniques in the detection of cardiac amyloidosis.
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