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

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Allen, M.J., Sharma, S. Noonan Syndrome. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022.
[2]	Sharland, M., Burch, M., McKenna, W.M., Paton, M.A. A clinical study of Noonan syndrome. Arch Dis Child. 1992, 67: 178-183.
[3]	Digilio, M., and Marino, B. Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol. 2001, 3(2):19-30.
[4]	Schaverien, M., Freedom, R., McCrindle, B.W. Independent Factors Associated With Outcomes of Parachute Mitral Valve in 84 Patients. Circulation. 2004, 109: 2309-2313.
[5]	Yuan, S.M. Parachute Mitral Valve: Anatomy and Operation. J Coll Physicians Surg Pak. 2020. 30(10):1069-1073.