Table 1. Phenotypic distributions for affected patients in both the discovery and replication cohorts.
Phenotype | Discovery Cohort | Replication Cohort |
Conotruncal Lesions | 28 (33.7%) | 70 (21.6%) |
Left Sided Obstructive Lesions | 0 (0%) | 2 (0.6%) |
Right Sided Obstructive Lesions | 5 (6%) | 20 (6.2%) |
Septal Defects | 37 (44.6%) | 123 (38%) |
Single Ventricle Lesions | 1 (1.2%) | 83 (25.6%) |
Valvular Defects | 3 (3.6%) | 18 (5.6%) |
Complex Defects* | 9 (10.8%) | 8 (2.5%) |
Total | 83 | 325 |
*Complex defects refer to those lesions that had elements of multiple classes or did not conform to the preceding classifications.