Table 6.
Top 21 combinations of phenotypes based on ICD codes and their association with wild-type ATTR cardiomyopathy (IQVIA dataset, Cohort 1).
| Combination of phenotypesa | Prevalence in ATTR-CM | Prevalence in controls | Number of phenotypes in addition to HF | Odds ratio (95% CI) | P-value |
|---|---|---|---|---|---|
| Combined systolic and diastolic HF, HFpEF | 52.1% | 17.3% | 2 | 5.2 (4.2–6.3) | 2.02 × 10−65 |
| Carpal tunnel syndrome | 31.9% | 7.8% | 1 | 5.5 (4.2–7.1) | 4.62 × 10−46 |
| AF, joint disorders, HFpEF | 29.7% | 7.0% | 3 | 5.6 (4.2–7.4) | 1.11 × 10−43 |
| Heart block, cardiomegaly, HFpEF | 28.7% | 6.4% | 3 | 5.8 (4.4–7.7) | 1.54 × 10−43 |
| Cardiomegaly, joint disorders, HFpEF | 28.7% | 6.5% | 3 | 5.7 (4.3–7.6) | 4.70 × 10−43 |
| Heart block, CKD, HFpEF | 26.6% | 6.6% | 3 | 5.1 (3.8–6.8) | 9.97 × 10−37 |
| AF, cardiomegaly, soft tissue disorders, HFpEF | 24.1% | 5.7% | 4 | 5.2 (3.9–7.1) | 2.95 × 10−34 |
| Heart block, soft tissue disorders, HFpEF | 23.7% | 5.7% | 3 | 5.1 (3.8–7.0) | 3.14 × 10−33 |
| AF, cardiomegaly, joint disorders, combined systolic and diastolic HF | 23.2% | 5.2% | 4 | 5.4 (4.0–7.5) | 2.99 × 10−34 |
| Heart block, cardiomegaly, joint disorders | 22.0% | 5.1% | 3 | 5.2 (3.8–7.2) | 2.28 × 10−31 |
| Heart block, joint disorders, combined systolic and diastolic HF | 21.8% | 4.7% | 3 | 5.6 (4.1–7.9) | 5.88 × 10−33 |
| Cardiomegaly, joint disorders, soft tissue disorders, combined systolic and diastolic HF | 21.5% | 5.0% | 4 | 5.1 (3.7–7.1) | 2.63 × 10−30 |
| Joint disorders, osteoarthrosis, pleurisy or pleural effusion, combined systolic and diastolic HF | 18.6% | 4.2% | 4 | 5.2 (3.7–7.4) | 6.63 × 10−27 |
| AF, joint disorders, pleurisy or pleural effusion, combined systolic and diastolic HF | 18.3% | 3.9% | 4 | 5.4 (3.8−7.9) | 1.42 × 10−27 |
| Joint disorders, osteoarthrosis, pleurisy or pleural effusion, HFpEF | 18.1% | 3.6% | 4 | 5.8 (4.0–8.5) | 1.51 × 10−28 |
| AF, CKD, pleurisy or pleural effusion, soft tissue disorders, combined systolic and diastolic HF | 16.0% | 3.5% | 5 | 5.1 (3.5–7.6) | 2.96 × 10−23 |
| AF, heart block, CKD, pleurisy or pleural effusion, combined systolic and diastolic HF | 15.3% | 3.3% | 5 | 5.3 (3.6–8.0) | 5.96 × 10−23 |
| AF, heart block, CKD, soft tissue disorders, combined systolic and diastolic HF | 15.1% | 3.4% | 5 | 5.1 (3.5–7.6) | 5.44 × 10−22 |
| AF, heart block, joint disorders, osteoarthrosis, soft tissue disorders | 14.5% | 3.2% | 5 | 5.1 (3.5–7.7) | 3.19 × 10−21 |
| AF, CKD, pleurisy or pleural effusion, soft tissue disorders, HFpEF | 14.4% | 3.2% | 5 | 5.1 (3.4–7.7) | 5.57 × 10−21 |
| Heart block, CKD, pleurisy or pleural effusion, soft tissue disorders, combined systolic and diastolic HF | 11.8% | 2.5% | 5 | 5.1 (3.3–8.1) | 1.62 × 10−17 |
Univariate logistic regression was used to calculate odds ratios. P-values are two-sided. Adjustments were not made for multiple comparisons.
AF atrial fibrillation (includes atrial flutter), CKD chronic kidney disease, HF heart failure, HFpEF heart failure with preserved ejection fraction.
aOne or more of these combinations were present in 876 (82%) of the IQVIA Cohort 1 patients with wild-type ATTR-CM.