Table 1. Cardiac malformations of patients, biopsies for mutation analysis, and NKX2-5 and HAND1 variations.
| Patient ID | Cardiac malformations and other anomalies | No.of tissue | Source of tissue* | NKX2-5 | HAND1 | ||
| rs2277923 | rs703752 | ||||||
| 26SS | aortic stenosis | 2 | RA, aortic valve + aorta ascendens | R | K | ||
| 30KK | VSD, Down syndrome | 1 | RA | R | K | ||
| 34JS | AVSD, Down syndrome | 1 | RA | R | G | ||
| 39YO | HLHS | 2 | RA near septum, myocardium RA | R | G | ||
| 44KB | subaortic VSD, double-chambered RV | 3 | RA, infundibulum, myocardium RV | R | K | ||
| 49NS | HLHS | 1 | RA | G | G | ||
| 52SP | HLHS | 1 | RA | A | K | ||
| 58LM | AVSD | 2 | RA, myocardium LV with papillary muscle | c.356C>A + c.543G>A | R | K | |
| 61MC | TOF | 3 | RA, myocadium RV, infundibulum | R | K | ||
| 65AT | HLHS | 1 | RA | c.355G>T | R | K | |
| 69MB | perimembranous VSD | 1 | RA | R | G | ||
| 72DR | TOF, Down syndrome | 1 | myocardium RV | G | G | ||
| 80HO | ASD sinus venosus, TAPVR | 2 | RA, LV | A | G | ||
| 89RR | VSD | 2 | RA, conduit RV-PA | A | K | ||
| 93RH | HLHS | 1 | RA | R | K | ||
| 96JF | VSD, aortic isthmus stenosis, aortic stenosis | 1 | aortic valve | R | G | ||
| 99NM | ASD | 1 | RA | A | T | c.252G>T | |
| 103JR | mitral valve stenosis, persistent left superior vena cava | 3 | RA, mitral valve, papillary muscle | A | G | ||
| 107CC | DORV, AVSD, hypoplasia of left AV valve and LV | 2 | RA, atrial septum | G | G | ||
| 111MO | aortic isthmus stenosis, aortic stenosis | 2 | RA, aortic valve | R | K | ||
| 114CL | AVSD, TOF | 1 | RVOT muscle | A | K | ||
| 117HT | VSD, TGA, pulmonary stenosis | 2 | RA, myocardium RV | A | G | ||
| 120DZ | hypertophy, cardiomyopathy | 2 | RA, myocardium and septum LV | A | G | ||
| 124MS | VSD | 1 | RA | A | T | ||
| 127PB | truncus cummunis, diGeorge | 3 | RA, myocardium RV, truncus | R | K | ||
| 130KM | tricuspid atresia | 2 | RA | R | G | ||
| 134MS | TOF | 2 | RA, RVOT infundibulum | R | K | ||
| 138LV | subaortic stenosis, aortic isthmus stenosis | 3 | RA, LVOT fibrous membrane | A | T | ||
*
RA = right atrium, VSD = ventricular septal defect, RV = right ventricle, LV = left ventricle, PA = pulmonary artery, RVOT = right ventricular outflow tract, RVOT = left ventricular outflow tract.