AI Can Detect Cardiac Amyloidosis from Echo Videos

Source: European Heart Journal | July 17, 2025
1. Overview of the Condition
• Cardiac amyloidosis occurs when misfolded proteins deposit in the heart, leading to thickened walls and impaired function.
• It mimics hypertensive heart disease and aortic stenosis, making diagnosis difficult, especially in early stages.
2. Diagnostic Challenges
• Early stages may not show wall thickening on standard echocardiography.
• Symptoms such as fatigue, ankle swelling, and shortness of breath are nonspecific.
• Traditional diagnosis requires biopsy or blood/urine tests.
3. Rising Prevalence
• From 2000 to 2012, prevalence rose from 8 to 17 per 100,000 person-years.
• A 2025 Mayo Clinic study found a 1.25% prevalence among >30,000 echo patients, with highest incidence in ages 80–89.
4. Delayed Diagnosis
• Many patients face diagnostic delays over a year, worsening outcomes and limiting treatment effectiveness.
5. AI-Based Screening Tool (EchoGo Amyloidosis)
• Developed by Mayo Clinic & Ultromics.
• FDA-approved in 2024.
• Uses echocardiogram videos to detect cardiac amyloidosis.
6. Study Design
• Retrospective multicenter validation at 18 global sites.
• Included 597 videos of confirmed cardiac amyloidosis and 2,122 controls.
• Used apical 4-chamber echocardiographic views.
7. Performance Metrics
• AUROC: 0.93
• Sensitivity: 85%
• Specificity: 93%
• Outperformed other markers like transthyretin (AUROC: 0.73) and wall thickness (AUROC: 0.80).
8. Clinical Application
• Echo labs can upload echo clips to a secure platform and receive automated AI analysis: “likely,” “unlikely,” or “indeterminate.”
9. Treatment Implications
• Early detection enables initiation of therapies before irreversible damage.
• FDA-approved medications:
• Tafamidis (Vyndamax)
• Acoramidis (Attruby)
• Vutrisiran (Amvuttra)
• These drugs slow disease progression but do not reverse existing damage.