Artificial intelligence-enabled fully automated detection of cardiac amyloidosis using electrocardiograms and

Shinichi Goto1,2,3, Keitaro Mahara4, Lauren Beussink-Nelson5

  • 1One Brave Idea and Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Insights

Artificial intelligence (AI) models can now detect cardiac amyloidosis (CA) using electrocardiograms (ECG) or echocardiograms, improving early diagnosis for this rare heart condition.

Area of Science:

  • Cardiology
  • Medical Imaging
  • Artificial Intelligence in Medicine

Background:

  • Rare cardiac conditions like cardiac amyloidosis (CA) present diagnostic challenges due to overlapping symptoms with common disorders.
  • Delayed diagnosis of CA hinders timely access to approved therapies.
  • Artificial intelligence (AI) offers potential for early detection of rare diseases.

Purpose of the Study:

  • To develop and validate an AI-driven pipeline for detecting cardiac amyloidosis (CA).
  • To assess the performance of AI models using electrocardiograms (ECG) and echocardiograms as input data.
  • To evaluate the potential of AI in improving the diagnostic pathway for CA.

Main Methods:

  • Developed AI models utilizing ECG and echocardiogram data for CA detection.
  • Trained and validated models across multiple academic medical centers (AMCs).
  • Simulated real-world deployment scenarios to assess predictive value and recall.

Main Results:

  • AI models achieved high C-statistics for CA detection: 0.85-0.91 for ECG and 0.89-1.00 for echocardiography.
  • Simulated deployment showed a positive predictive value (PPV) of 3-4% for the ECG model at 52-71% recall.
  • Pre-screening with ECG significantly enhanced echocardiography model performance, increasing PPV from 33% to 74-77% at 67% recall.

Conclusions:

  • An automated AI strategy was developed to enhance the detection of cardiac amyloidosis.
  • The AI pipeline demonstrates potential for improving diagnostic efficiency in rare cardiac diseases.
  • The developed approach is expected to be generalizable to other rare cardiac conditions.

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