1Internal Medicine Department, RWJBarnabas Health/Trinitas Regional Medical Center, Elizabeth, New Jersey, USA
2Cardiology Department, St. Joseph’s University Medical Center, Paterson, New Jersey, USA
3Internal Medicine Department, Rutgers University-New Brunswick, Jersey City, New Jersey, USA
American Journal of Medical Case Reports.
2023,
Vol. 11 No. 5, 98-100
DOI: 10.12691/ajmcr-11-5-4
Copyright © 2023 Science and Education PublishingCite this paper: Jesus Romero, Sherif Elkattawy, Sohail Sodhi, Ana L. Romero, Omar Elkattawy, Rachel Abboud, Razan Shamoon, Fayez Shamoon. An Unusual Congenital Heart Disease in a Patient with Noonan Syndrome: Isolated Parachute-like Asymmetric Mitral Valve.
American Journal of Medical Case Reports. 2023; 11(5):98-100. doi: 10.12691/ajmcr-11-5-4.
Correspondence to: Jesus Romero, Internal Medicine Department, RWJBarnabas Health/Trinitas Regional Medical Center, Elizabeth, New Jersey, USA. Email:
je-romeros@hotmail.comAbstract
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.
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