Zoe Kinkade, M.D., Marybeth Hummel, M.D., and Sharon L. Wenger, Ph.D.
The patient is a 2 week old male with a heart murmur noted on newborn exam. An echocardiogram revealed supravalvular aortic stenosis, ventricular septal defect (VSD) and an atrial septal defect (ASD), for which he is status post surgical repair performed on day 8 of life. The patient failed the newborn hearing screen bilaterally and on examination has a short upturned nose, low set and posteriorly rotated ears, full-appearing lips, redundant nuchal and extremity skin folds.
He was born at 40 weeks gestation via Caesarian section for failure to progress. There were no complications during the pregnancy and all prenatal imaging studies were unremarkable. The patient has a healthy 1 year-old brother and there is no family history of congenital heart defects, learning disabilities, or other genetic syndromes. He was sent for a genetics consult to rule out a chromosomal abnormality.