Summative Diagnosis:
Mutant Type 1:
Cardiovascular defects: Heterotaxy with congenital heart disease such as dextroversion with hypoplastic right ventricle (RV), double outlet right ventricle (DORV), muscular and membranous ventricular septal defects, aortic arch anomalies including vascular ring
Non-cardiovascular defects: Duplex kidneys with cysts and hydronephrosis

Mutant Type 2:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Cystic kidney, duplex/multiplex kidney, and hydronephrosis

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
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1821 Hypoplastic right ventricle (subnormal cavity volume)
2704 Aortic arch hypoplasia
2760 Vascular ring
3804 Congenital heart disease
3953 {S,D,S}
4502 Hydronephrosis
4508 Polycystic kidney disease
7504 Biventricular hypertrophy