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.