Proband | Brother | Sister | Sister | Father | Mother | |
---|---|---|---|---|---|---|
II-3 | II-1 | II-4 | II-2 | I-1 | I-2 | |
Age at Time of Screening (years) | 4 | 2 | 8 | 3 | 36 | 34 |
Presence of R205Q variant | Yes | Yes | Yes | No | Yes | No |
Ejection Fraction (%) | 13 | 47 | 37 | 64 | 38 | 57 |
LVIDd (cm) | 6.6 | 4.4 | 6.4 | 3.7 | 5.1 | 4.5 |
Mitral Valve E/A | 1.73 | 1.9 | 2.9 | 1.8 | 1.4 | 1.9 |
Lateral E’ velocity (cm s−1) | 10 | 26 | 22 | 16 | 15.7 | 12 |
Lateral A’ velocity (cm s−1) | 3 | 6 | 6 | 5 | 9.7 | 7 |