@article{ajmcr20231154,
author={{Romero, Jesus and Elkattawy, Sherif and Sodhi, Sohail and Romero, Ana L. and Elkattawy, Omar and Abboud, Rachel and Shamoon, Razan and Shamoon, Fayez},
title={An Unusual Congenital Heart Disease in a Patient with Noonan Syndrome: Isolated Parachute-like Asymmetric Mitral Valve},
journal={American Journal of Medical Case Reports},
volume={11},
number={5},
pages={98--100},
year={2023},
url={http://pubs.sciepub.com/ajmcr/11/5/4},
issn={2374-216X},
abstract={Noonan syndrome is an inherited disorder that involves various organs, such as dysmorphic facial features, cardiac defects, and cryptorchidism, among others. Its pathophysiology is linked to germ-line mutations in the RAS/mitogen-activated protein kinase (MAPK) pathway. The most frequent cardiac defect in this syndrome is pulmonary valve stenosis. Conversely, mitral valve involvement is rare, and a parachute-like asymmetric mitral valve presentation is even rarer. In cases where surgery is necessary, mitral valve repair is preferred over mitral valve replacement. Here we present a case of a 20-year-old gentleman with Noonan syndrome who was found to have a parachute-like mitral valve evidenced by a 2D-Echocardiogram.},
doi={10.12691/ajmcr-11-5-4}
publisher={Science and Education Publishing}
}