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Artificial Intelligence in Cardiac Amyloidosis: A State-of-the-Art Review
1Division of Cardiology, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
Insights
Cardiac amyloidosis (CA) is often missed due to subtle signs. Artificial intelligence (AI) is improving early detection and diagnosis of CA by analyzing complex data from various cardiac imaging tests.
Area of Science:
- Cardiology
- Medical Imaging
- Artificial Intelligence
Background:
- Cardiac amyloidosis (CA) is frequently underdiagnosed, often presenting with symptoms overlapping other heart conditions like hypertrophic cardiomyopathy.
- Diagnostic delays in CA occur because key indicators can be subtle, atypical, or missed, especially in early disease stages.
Purpose of the Study:
- To review the current applications of artificial intelligence (AI) in diagnosing cardiac amyloidosis (CA) using multimodal testing.
- To highlight AI's potential in overcoming diagnostic challenges associated with CA's subtle and overlapping clinical features.
Main Methods:
- Review of current literature on AI applications in cardiovascular imaging for CA diagnosis.
- Synthesis of AI's role in electrocardiography, echocardiography, cardiac magnetic resonance, and nuclear scintigraphy for CA evaluation.
Main Results:
- AI-enhanced electrocardiography shows high performance for scalable CA screening and early detection.
- AI in echocardiography improves standardization and reduces variability in video-based analysis.
- AI tools for cardiac MRI and nuclear imaging enable automated quantification and reproducible assessment of amyloid burden.
Conclusions:
- AI offers a powerful approach to detect subtle disease signatures in CA, integrating multimodal and longitudinal data.
- AI applications are advancing CA diagnosis, phenotyping, risk stratification, and treatment monitoring, leading to earlier and more accurate patient management.
Abstract:
Cardiac amyloidosis (CA) remains underrecognized due to overlapping features with other cardiovascular conditions, including hypertrophic cardiomyopathy and hypertensive heart disease. Certain 'red flag' features across the clinical and imaging spectrum help identify CA. However, these features are often absent, subtle, or inconsistently recognized, particularly in early disease, and are atypical phenotypes. This leads to frequent delays in diagnosis and presentation at advanced stages. Artificial intelligence (AI) offers a promising approach to detect subtle disease signatures by integrating multimodal and longitudinal data beyond human pattern recognition. AI-enhanced electrocardiography has emerged as a scalable screening tool, demonstrating high diagnostic performance and enabling earlier detection. In parallel, echocardiographic AI has evolved toward video-based analysis, improving standardization and reducing inter-reader variability. Similarly, AI applications in cardiac magnetic resonance and nuclear scintigraphy allow for automated quantification and more reproducible assessment of amyloid burden. Beyond diagnosis, emerging models support disease phenotyping, risk stratification, and treatment monitoring. This review synthesizes current applications of AI across multimodal testing in the evaluation and diagnosis of CA.
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