Applying Diagnosis Support Systems in Electronic Health Records to Identify wild-type Transthyretin Amyloid Cardiomyopathy Risk

Figures & data

Table 1. Patient criteria and ATTRwt-CM–associated phenotypes/phenotype combinations implemented in the EHR-based pilot programs.

Patient criteria	Phenotypes	Phenotype combinations
Medstar (Cerner) and WashU (Epic) pilot programs
• Age ≥50 years • Heart failure diagnosis (active/resolved) • No end-stage renal disease diagnosis • No amyloidosis diagnosis, that is, none of the following:   ○ Light-chain amyloidosis   ○ Cerebral amyloid angiopathy   ○ Amyloidosis/other amyloidosis/unspecified amyloidosis   ○ Secondary systemic amyloidosis   ○ Organ-limited amyloidosis   ○ Wild-type transthyretin–related amyloidosis   ○ Non-neuropathic/neuropathic/unspecified heredofamilial amyloidosis	• Cardiac-related phenotypes   1. Atrial fibrillation/flutter   2. Cardiomegaly   3. Heart block • Noncardiac-related phenotypes   4. Carpal tunnel syndrome   5. CKD   6. Joint disorder   7. Osteoarthrosis   8. Pleurisy or pleural effusion   9. Soft tissue disease^†	• Atrial fibrillation/flutter plus:   1. Cardiomegaly + CKD + joint disorder   2. Cardiomegaly + CKD + joint disorder + osteoarthrosis   3. Cardiomegaly + CKD + soft tissue disease   4. Cardiomegaly + joint disorder + soft tissue disease   5. Cardiomegaly + joint disorder + osteoarthrosis + pleurisy or pleural effusion   6. Carpal tunnel syndrome   7. Heart block + cardiomegaly + osteoarthrosis   8. Heart block + joint disorder • Cardiomegaly plus:   9. Carpal tunnel syndrome   10. CKD + joint disorder + soft tissue disease   11. Joint disorder + osteoarthrosis + pleurisy or pleural effusion • Heart block plus:   12. Cardiomegaly + CKD + osteoarthrosis   13. Cardiomegaly + joint disorder   14. Cardiomegaly + joint disorder + osteoarthrosis   15. Cardiomegaly + soft tissue disease   16. CKD + joint disorder   17. Joint disorder + osteoarthrosis   18. Joint disorder + soft tissue disease • Carpal tunnel syndrome plus:   19. – ^‡   20. CKD
UUH (Epic) pilot program
• Age ≥50 years • Heart failure diagnosis (active/resolved) • No end-stage renal disease diagnosis • No amyloidosis diagnosis, that is, none of the following:   ○ Light-chain amyloidosis   ○ Cerebral amyloid angiopathy   ○ Amyloidosis/other amyloidosis/unspecified amyloidosis   ○ Secondary systemic amyloidosis   ○ Organ-limited amyloidosis   ○ Wild-type transthyretin–related amyloidosis   ○ Non-neuropathic/neuropathic/unspecified heredofamilial amyloidosis	• Cardiac-related phenotypes   1. Atrial fibrillation/flutter   2. Cardiomegaly   3. Heart block   4. Systolic or combined heart failure   5. Diastolic heart failure • Noncardiac-related phenotypes   6. Carpal tunnel syndrome   7. CKD   8. Joint disorder   9. Osteoarthrosis   10. Pleurisy or pleural effusion   11. Soft tissue disease^†	• Atrial fibrillation/flutter plus:   1. Cardiomegaly + joint disorder + systolic or combined heart failure   2. Cardiomegaly + soft tissue disease + diastolic heart failure   3. CKD + pleurisy or pleural effusion + osteoarthrosis + soft tissue disease   4. CKD + pleurisy or pleural effusion + soft tissue disease + diastolic heart failure   5. Heart block + CKD + pleurisy or pleural effusion + systolic or combined heart failure   6. Heart block + CKD + soft tissue disease + systolic or combined heart failure   7. Heart block + joint disorder + osteoarthrosis + soft tissue disease   8. Joint disorder + diastolic heart failure   9. Joint disorder + pleurisy or pleural effusion + systolic or combined heart failure • Cardiomegaly plus:   10. Joint disorder + diastolic heart failure   11. Joint disorder + soft tissue disease + systolic or combined heart failure • Heart block plus:   12. Cardiomegaly + diastolic heart failure   13. Cardiomegaly + joint disorder   14. CKD + diastolic heart failure   15. CKD + pleurisy or pleural effusion + soft tissue disease + systolic or combined heart failure   16. Joint disorders + systolic or combined heart failure   17. Soft tissue disease + diastolic heart failure • Systolic or combined heart failure plus:   18. Diastolic heart failure • Carpal tunnel syndrome plus:   19. – ^‡ • Joint disorder plus:   20. Osteoarthrosis + pleurisy or pleural effusion + diastolic heart failure   21. Osteoarthrosis + pleurisy or pleural effusion + systolic or combined heart failure

† Includes enthesopathy, non-traumatic tendon rupture and strains or sprains.

‡ Combined with patient inclusion criteria.

ATTR-CM: Transthyretin amyloid cardiomyopathy; CKD: Chronic kidney disease; EHR: Electronic health record; UUH: University of Utah Health; WashU: Washington University.

Figure 1. Pilot program cohort summaries.

*15,123 alert firings for 2272 unique visits.

^†Active or resolved.^‡Includes duplicate patients.

ATTR-CM: Transthyretin amyloid cardiomyopathy; BPA: Best Practice Advisory; dx: Diagnosis; hx: History: pts: Patients.

Figure 2. Proportion of patients identified as at risk in the reports at Medstar (Cerner, Discern Analytics), Washington University (Epic, Clarity) and University of Utah Health (Epic, Clarity) by ATTRwt-CM-related phenotype combination found in ≥10% of patients.

Afib: Atrial fibrillation; ATTR-CM: Transthyretin amyloid cardiomyopathy; CKD: Chronic kidney disease; HF: Heart failure; OA: Osteoarthritis; pts: Patients.