Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy presenting with spectrum of congenital heart disease, including dextrocardia, transposition of the great arteries (d-TGA), double outlet right ventricle (DORV) with atrioventricular (AVSD) ventricular septal defects (VSD), mitral valve atresia, and ventricular non-compaction
Noncardiovascular phenotype: Situs inversus totalis and abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, hypoplastic spleen, left lung isomerism, and malaligned sternal vertebra. Also observed was micrognathia and airway cilia showing a wide range of motion defects including immotility, hyperkinetic beat, dyskinetic and slow cilia motility.

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
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1508 Mitral valve abnormality
1802 Excessive myocardial trabeculation or noncompaction
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4239 Left bronchial isomerism
4906 Non-cardiac abnormality