Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Complex congenital heart defects associated with heterotaxy, such as transposition of the great arteries (TGA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), right atrial isomerism with duplicated inferior vena cava (IVC), inverted hemiazygous venous connection with left sided hepatic vein connecting to the left side atrium, perimembranous ventricular septal defect (VSD), and inverted liver.
Noncardiac phenotype: situs inversus, right pulmonary isomerism, hemizygous venous connection
Mutant Type 2:
Cardiovascular phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), hypoplastic aortic arch, subaortic ventricular septal defect (VSD), and muscular ventricular septal defect (mVSD)

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
1300 Ventricular septal defect
1432 Overriding aortic valve
0110 Dextrocardia
0190 Heterotaxy syndrome
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly
3950 {S,D,D}
3973 {I,L,L}
4240 Right bronchial isomerism
4447 Hepatic malformation
0600 Double outlet right ventricle
1200 Coarctation
0800 L-loop transpostion of the great arteries
1310 Ventricular septal defect, membranous
3804 Congenital heart disease
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve