Female, age 3, with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis) and global developmental delay.
Oct 28, 2019
The participant was born after an uncomplicated pregnancy, however, she had difficulty breathing after birth. She was also found to have a heart murmur and heart abnormalities (hypoplastic left heart syndrome, mitral stenosis, mitral regurgitation, aortic insufficiency, endocardial fibroelastosis). Due to poor ventricular function, she could not have surgery and was placed on the list for a heart transplant. She received a transplant at 5 months old. A gastrostomy tube was placed at that time to help with feeding.
The participant has delayed motor and language skills. She began walking at 14 months and started using words at 15 months. She is a social and happy child and attends preschool. She has some difficulty with pronunciation as well as grabbing items with her hands. She currently receives physical, occupational, feeding and speech therapy.
A recent evaluation showed average cognitive functioning, difficulty with word retrieval, controlling impulses and overall behavioral and emotional regulation.
Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
