<?xml version="1.0" encoding="UTF-8"?>
<records>
<record>
<language>eng</language>
<publisher>Science and Education Publishing</publisher>
<journalTitle>American Journal of Medical Case Reports</journalTitle>
<eissn>2374-216X</eissn>
<publicationDate>2023-06-29</publicationDate>
<volume>11</volume>
<issue>5</issue>
<startPage>98</startPage>
<endPage>100</endPage>
<doi>10.12691/ajmcr-11-5-4</doi>
<publisherRecordId>AJMCR20231154</publisherRecordId>
<documentType>article</documentType>
<title language="eng">An Unusual Congenital Heart Disease in a Patient with Noonan Syndrome: Isolated Parachute-like Asymmetric Mitral Valve</title>
<authors>
<author>
<name>Jesus Romero</name>
<email>je-romeros@hotmail.com</email>
<affiliationId>1</affiliationId>
</author>
<author>
<name>Sherif Elkattawy</name>
<affiliationId>2</affiliationId>
</author>
<author>
<name>Sohail Sodhi</name>
<affiliationId>2</affiliationId>
</author>
<author>
<name>Ana L. Romero</name>
<affiliationId>2</affiliationId>
</author>
<author>
<name>Omar Elkattawy</name>
<affiliationId>3</affiliationId>
</author>
<author>
<name>Rachel Abboud</name>
<affiliationId>3</affiliationId>
</author>
<author>
<name>Razan Shamoon</name>
<affiliationId>3</affiliationId>
</author>
<author>
<name>Fayez Shamoon</name>
<affiliationId>3</affiliationId>
</author>

</authors>
<affiliationsList>
<affiliationName affiliationId="1">Internal Medicine Department, RWJBarnabas Health/Trinitas Regional Medical Center, Elizabeth, New Jersey, USA</affiliationName>
<affiliationName affiliationId="2">Cardiology Department, St. Joseph¡¯s University Medical Center, Paterson, New Jersey, USA</affiliationName>


<affiliationName affiliationId="3">Internal Medicine Department, Rutgers University-New Brunswick, Jersey City, New Jersey, USA</affiliationName>



</affiliationsList>
<abstract language="eng">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.</abstract>
<fullTextUrl format="pdf">http://pubs.sciepub.com/ajmcr/11/5/4/ajmcr-11-5-4.pdf</fullTextUrl>
<keywords language="eng"><keyword>Noonan syndrome</keyword>
<keyword>MAPK pathway</keyword>
<keyword>cardiac defects</keyword>
<keyword>parachute mitral valve</keyword>
<keyword>parachute-like asymmetric mitral</keyword>
</keywords>
</record>
</records>
