Cardiac Complications of Chromosome 8 Mutation in 12 year old male

Chromosome 8 contains crucial information for the proper formation of the early developing heart. Proximal chromosomal abnormalities have long been associated with compound congenital heart defects. (1) Atrial Septal Defects(ASD) and Ventricular Septal Defects(VSD) create abnormal connections and possible shunting between the atria and or ventricles. These lesions are one of the most important and frequently reported congenital cardiac defects in patients with identified proximal chromosome 8 defects. However, on rare occasions more complex cardiac abnormalities and even abnormal venous connections can also be present. We report on the identification, management, and eventual treatment of a 12-year-old male with the following: Absent Right Superior Vena Cava, Left Superior Vena Cava with drainage into the Coronary Sinus, Persistent Azygous Vein with drainage into Left Superior Vena Cava, Secundum ASD with left to right shunt, and most unusually late presenting Ventriculoatrial Defect(VAD) with left ventricle to right atrial shunt.