An Unusual Congenital Heart Disease in a Patient with Noonan Syndrome: Isolated Parachute-like Asymmetric Mitral Valve

Jesus Romero^1, , Sherif Elkattawy², Sohail Sodhi¹, Ana L. Romero¹, Omar Elkattawy³, Rachel Abboud², Razan Shamoon² and Fayez Shamoon²

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

Cite this paper:
Jesus Romero, Sherif Elkattawy, Sohail Sodhi, Ana L. Romero, Omar Elkattawy, Rachel Abboud, Razan Shamoon and 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

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.

Keywords:
Noonan syndrome MAPK pathway cardiac defects parachute mitral valve parachute-like asymmetric mitral

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