Artificial Intelligence Guided Echocardiographic Screening of Rare Diseases
Cedars-Sinai Medical Center
Summary
Despite rapidly advancing developments in targeted therapeutics and genetic sequencing, persistent limits in the accuracy and throughput of clinical phenotyping has led to a widening gap between the potential and the actual benefits realized by precision medicine. Recent advances in machine learning and image processing techniques have shown that machine learning models can identify features unrecognized by human experts and more precisely/accurately assess common measurements made in clinical practice. The investigators have developed an algorithm, termed EchoNet-LVH, to identify cardiac hypertrophy and identify patients who would benefit from additional screening for cardiac amyloidosis and will prospectively evaluate its accuracy in identifying patients whom would benefit from additional screening for cardiac amyloidosis.
Description
Despite rapidly advancing developments in targeted therapeutics and genetic sequencing, persistent limits in the accuracy and throughput of clinical phenotyping has led to a widening gap between the potential and the actual benefits realized by precision medicine. This conundrum is exemplified by current approaches to assessing morphologic alterations of the heart. If reliably identified, certain cardiac diseases (e.g. cardiac amyloidosis and hypertrophic cardiomyopathy) could avoid misdiagnosis and receive efficient treatment initiation with specific targeted therapies. The ability to reliabl…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Patients who have a high suspicion for cardiac amyloidosis by AI algorithm Exclusion Criteria: * Patients who decline to be seen at specialty clinic * Patients who have passed away
Interventions
- OtherEchoNet-LVH screening for cardiac amyloidosis
An AI algorithm identifies LVH, low voltage, and high suspicion for cardiac amyloidosis. The intervention is the suspicion score. Patients with high suspicion score will be referred to specialty clinic for standard of care evaluation, screening, and treatment as determined by physicians.
Location
- Cedars-Sinai Medical Centre (Los Angeles)Los Angeles, California