Table 4.
Echocardiographic parameters in OI patients with different genotypes and defects of type I collagen compared with controls.
| OI patients with different genotypes | OI patients with different defects of type I collagen | Controls (n=42) | |||||
|---|---|---|---|---|---|---|---|
| COL1A1 mutation (n=39) | COL1A2 mutation (n=10) | Other rare gene mutations (n=8) | Haplo-insufficiency (n=21) | Triple-helical structure change (n=15) | Others (n=13) | ||
| PAO (cm) | 2.09 ± 0.43 | 2.10 ± 0.58 | 2.27 ± 0.30 | 2.14 ± 0.42 | 2.01 ± 0.39 | 2.02 ± 0.47 | 2.03 ± 0.45 |
| MPA (cm) | 1.83 ± 0.31** | 1.78 ± 0.29 | 1.89 ± 0.21 | 1.84 ± 0.31* | 1.91 ± 0.30* | 1.75 ± 0.35 | 1.60 ± 0.32 |
| LAD (cm) | 2.62 ± 0.51*** | 2.55 ± 0.49 | 2.58 ± 0.53 | 2.60 ± 0.47** | 2.73 ± 0.58** | 2.52 ± 0.49 | 2.11 ± 0.42 |
| LVEDd (cm) | 3.90 ± 0.59* | 3.78 ± 0.62 | 3.94 ± 0.45 | 3.96 ± 0.64* | 3.90 ± 0.61 | 3.63 ± 0.57 | 3.50 ± 0.62 |
| RVEDd (cm) | 1.78 ± 0.38 | 1.62 ± 0.34 | 1.96 ± 0.29 | 1.71 ± 0.33 | 1.83 ± 0.38 | 1.73 ± 0.45 | 1.65 ± 0.22 |
| IVST (cm) | 0.57 ± 0.13 | 0.53 ± 0.12 | 0.61 ± 0.15 | 0.58 ± 0.13 | 0.56 ± 0.13 | 0.54 ± 0.14 | 0.67 ± 0.27 |
| LVPWT (cm) | 0.56 ± 0.13 | 0.52 ± 0.12 | 0.60 ± 0.12 | 0.58 ± 0.14 | 0.54 ± 0.12 | 0.54 ± 0.14 | 0.67 ± 0.27 |
| LVM (g) | 61.34 ± 32.51 | 51.75 ± 26.12 | 68.88 ± 30.96 | 65.21 ± 35.65 | 58.73 ± 26.05 | 51.44 ± 31.33 | 66.17 ± 46.04 |
| HR (bpm) | 90.47 ± 17.43 | 96.38 ± 15.87 | 87.63 ± 4.93 | 89.20 ± 15.97 | 93.77 ± 20.18 | 92.83 ± 17.34 | 91.81 ± 20.14 |
| LVEF (%) | 68.00 ± 4.40** | 70.30 ± 4.30 | 68.13 ± 4.48 | 69.00 ± 4.64 | 69.21 ± 4.19 | 66.00 ± 3.95** | 71.74 ± 5.87 |
Data were expressed as mean ± standard deviation. OI, osteogenesis imperfecta; PAO, proximal ascending aorta; MPA, main pulmonary artery; LAD, left atrial anteroposterior dimension; LVEDd, left ventricular end-diastolic dimension; RVEDd, right ventricular end-diastolic dimension; IVST, interventricular septal wall thickness; LVPWT, left ventricular posterior wall thickness; LVM, left ventricular mass; HR, heart rate; LVEF, left ventricular ejection fraction.
*P < 0.05, vs controls; **P < 0.01, vs controls; ***P < 0.001, vs controls.