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Noonan Syndrome in a 14-year-old Female with Heart Failure.

Author

Dian Aristi Nugraheni,
Sri Lilijanti  Widjaja,
Alfa Alfin  Nursidiq

Related Institution

Faculty of Medicine Universitas Sebelas Maret, Dr. Moewardi Hospital, Surakarta Indonesia

Publication Information

Publication Type
Journal
Publication Sub Type
Case report
Project Title
Philippine Journal of Cardiology
Title
Noonan Syndrome in a 14-year-old Female with Heart Failure
Frequency
Semi-Annual
Publication Date
July-December 2019
Volume
47
Issue
2
Page(s)
45-50

Abstract

Noonan syndrome is a genetic disorder leading to multiple congenital abnormalities and other health complications, with an incidence of one in 1,000 to 2,500 live births. It is difficult to identify because of its various clinical manifestations. This is the case of a 14-year old female admitted for cardiac failure. The patient was born with normal birth weight but had stunted growth and started walking at the age of five years old. She had speech as well as learning difficulties. She had curly hair, deeply grooved philtrum, ptosis, hypertelorism, micrognathia, low set ears, webbed neck, pectus carinatum, mild thoracic scoliosis and short stature. Her bone age was in line with that of an 8-10 months old infant. Her luteinizing hormone level was below normal. Echocardiography showed severe infundibular pulmonary stenosis, secundum atrial septal defect (ASD), bidirectional shunt with a diameter of 2.1 cm, an anterior rim of 3.71 cm and a posterior rim of 1.17 cm. She also had severe tricuspid regurgitation due to severe infundibular pulmonary stenosis, and moderate mitral regurgitation due to posterior mitral leaflet prolapse. She received hormonal therapy, an angiotensin-converting enzyme inhibitor, a beta-blocker, spironolactone and furosemide. Resection of the infundibular muscle, ASD closure and repair mitral valve was planned.

Physical Location

LocationLocation CodeAvailable FormatAvailability
Philippine Heart Association Fulltext pdf (Download)

 
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