Table 4.
Patients | GATA4 Alteration* | Probands with Family History | |
---|---|---|---|
Cardiac Lesion | # (%) | # (%) | History |
Endocardial Cushion Defects | 42 (39) | 2 (4.8) | 0 |
Double Inlet LV | 9 (8) | 1 (11.1) | 0 |
ASD/VSD | 8 (7) | 1 (12.5) | 1 |
Cardiomyopathy* | 48 (45) | 0 (0) | 6 |
TOTAL | 107 | 4 (3.7) |
24 of these patients were via personal communications from M. Sarkar, C. Seidman, and J. Seidman
GATA4 alteration is defined as a nonsynonomous sequence alteration not found in control individuals.