Table 2.
MYL3 c.170C>A Individual I.2 | MYL3 c.170C>A Individual II.2 | MYL3 c.170C>A Individual II.1 | MYL3 c.170C>A Individual III.2 | MYBPC3 c.961G>A Patient | |
---|---|---|---|---|---|
LVID (cm) | 4.5 | 4.7 | 5.4 | 4.4 | 4.5 |
Septal WT (cm) | 0.85 | 0.82 | 0.92 | 0.67 | 1.8 |
Posterior WT (cm) | 0.87 | 0.88 | 0.85 | 0.74 | 0.92 |
Relative WT | 0.38 | 0.36 | 0.33 | 0.32 | 0.41 |
LV mass index (g/m2) | 75 | 66 | 84 | 65 | 151 |
LVEF (%) | 70 | 68 | 61 | 67 | 48.7 |
E (cm/s) | 69 | 62 | 51 | 90 | 58.7 |
E/A | 1.3 | 0.9 | 1 | 2 | 1.4 |
e’ average (cm/s) | 6.5 | 7.0 | 10 | 13 | 7.1 |
E/e’ | 11 | 8.9 | 5.1 | 6.9 | 8.5 |
LAV index (mL/m2) | 28 | 23 | 21 | 24 | 41.2 |
Estimated RAP (mmHg) | 3 | 3 | 3 | 3 | 10 |
Septal curvature | Normal | Normal | Normal | Normal | Reverse curvature |
LVID: left ventricular diastolic diameter, WT: wall thickness, LV: left ventricular, LVEF: left ventricular ejection fraction, E: peak early diastolic transmitral flow velocities, E/A: peak early and late diastolic transmitral flow velocities ratio, E/e’: peak early diastolic transmitral flow velocities and peak early diastolic mitral annular velocities ratio, LAV: left atrial volume, RAP: right atrial pressure. MYL3 c.170C>A individuals: I.2 70 yo mother; II.1 48 yo brother; II.2 46 proband; III.2 11 yo daughter.