Table 4. Prevalence of cardiomyopathy and echocardiographic parameters by mutation group.
| Prevalence of cardiomyopathy by mutation group |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| del 45-x (n = 28) n% | del 48 (n = 10) n% | del x-51 (n = 10) n% | other (n = 21) n% | total (n = 69) n% | ||||||
| Dilated cardiomyopathy | 17 | 61% | 2 | 20% | 4 | 40% | 12 | 57% | 35 | 51% |
| No dilated cardiomyopathy | 11 | 39% | 8 | 80% | 6 | 60% | 9 | 43% | 34 | 49% |
| Orthotopic heart transplantation* | 1 | 4% | 0 | 0% | 0 | 0% | 2 | 10% | 3 | 4% |
| Ecocardiographic parameters (within 1 year before or after baseline functional evaluation) | ||||||||||
| del 45-x (n = 21)† | del 48 (n = 8)† | del x-51 (n = 9)† | other (n = 18)† | total (n = 56)† | ||||||
| Average LVEF (%) ± SD | 54.8 ± 9.7 | 56.5 ± 4.5 | 59.7 ± 5.4 | 57.2 ± 10.6 | 56.7 ± 8.9 | |||||
| LVEDV (mL/m2) ± SD | 64.5 ± 18.8 | 63.4 ± 7.5 | 62.0 ± 12.0 | 62.3 ± 22.6 | 63.2 ± 17.7 | |||||
See Methods for definition of cardiomyopathy.
*Patients who had undergone heart transplantation were also included in the “dilated cardiomyopathy” count.
†Echocardiographic parameters within 1 year before or after baseline functional evaluation were not available for all patients. LVEF: Left Ventricular Ejection Fraction. LVEDV: Left Ventricular End Diastolic Volume.