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. 2022 Oct 20;13:1004946. doi: 10.3389/fendo.2022.1004946

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.