Persistent truncus arteriosus is a rare congenital (present at birth) heart defect which affects the circulation of the baby’s blood. In normal circulation, the pulmonary artery comes out of the right ventricle and the aorta comes out of the left ventricle, which are separate from each other. With truncus arteriosus, a single artery comes out of the ventricles. There is usually also a large hole between the two ventricles (ventricular septal defect). As a result, the blue (without oxygen) and red (oxygen-rich) blood mix. This means the organs and body of the baby are not getting enough oxygen rich blood. Too much of the blood goes to the lungs and this can make it difficult for the baby to breathe and can damage the blood vessels leading to the lungs.
Causes of this disease are largely unknown. However, about 35% are linked to chromosome 22q11 deletions. Additional causes include genetics, viruses, and exposure to different pharmaceuticals and industrial factors. Symptoms may include bluish skin, delayed growth or growth failure, abnormal sleepiness or inactivity, poor feeding, rapid breathing, shortness of breath and widening of the finger tips. A heart murmur is usually heard on examination of the baby. Tests may include special tests of the heart (MRI and heart catheterization) and chest x-ray. Treatment involves surgical repair of the defects. Often further surgery may be needed as the child grows. With early surgical repair, the outlook for the baby is good. Without surgery heart failure and high blood pressure in the lungs leads to death. If your baby has been diagnosed with persistent truncus arteriosus, talk with your pediatrician and specialists about the most current surgical options. For additional support, seek out support groups.