Table 2.
Uptake of medical management recommendations among V142I variant positive individuals.
| Follow-Up with Specialists (N = 32) | No. (%) | Weeks Post-Results Disclosure, Median (Range) |
|---|---|---|
| Cardiologist/Cardiovascular geneticist | 18 (56) | 4.9 (0.4–34.9) |
| Heart failure specialist | 2 (6) | 15.4 (1.9–28.9) |
| Neurologist | 2 (6) | 27.4 (16.0–38.7) |
| Interventions among Individuals Seen by a Specialist (N = 16) | No.* (%) | Weeks Post-Results Disclosure, Median (Range) |
| ECG | 10 of 12 (83) | 3.0 (0.4–20.0) |
| Echocardiogram | 12 of 16 (75) | 13.5 (2.1–41.0) |
| Tc-99m-PYP scintigraphy | 10 of 13 (77) | 8.3 (2.1–38.0) |
* Five individuals had an electrocardiogram (ECG) and 2 had an echocardiogram in the 12 months preceding their specialist visit, and were not recommended additional ECGs or echocardiograms. Twelve individuals were recommended Tc-99m-PYP scintigraphy.