Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy with congenital heart disease such as dextrocardia, double outlet right ventricle (DORV), transposition of the great arteries (TGA), ventricular (VSD), atrial (ASD), and atrioventricular septal defect (AVSD), and superior-inferior ventricles
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as malalignment of sternal vertebrae, right pulmonary isomerism, hypoplastic spleen, as well as inverted liver and lung. Also observed were kidney defects such as duplex, cystic, and hydronephrotic. Tracheal airway cilia were immotile

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
0100 Situs inversus totalis
0110 Dextrocardia
159 Biventricular, discordant atrioventricular connection
160 Biventricular, ambiguous atrioventricular connection
184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1170 Common AV valve
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4240 Right bronchial isomerism
4502 Hydronephrosis
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
700 D-loop transposition of the great arteries