ABSTRACT
Background: Noonan's Syndrome [NS] is a common genetic disorder associated with congenital heart disease. It is an autosomal dominant. Cardiac defects are found in 50-60% of cases of this syndrome. Ventricular outflow obstruction in the form of pulmonary valvular stenosis and hypertrophic cardiomyopathy [HOCM] is the most common congenital heart condition. Apart from HOCM, mitral valve anomalies are also associated with left ventricular outflow obstruction
Objective: To identify congenital heart diseases associated with Noonan's syndrome
Design: A Retrospective Study
Setting: Pediatric Cardiac Outpatient Service, Bahrain Defence Force Hospital, Bahrain
Method: All patients with confirmed Noonan's syndrome from 2005 to 2018 were included in the study. Cardiac evaluation was performed by chest X-ray, ECG, 2D echocardiography and cardiac catheterization. Personal characteristics were documented: age at diagnosis, sex and consanguinity. Morphologic types of congenital heart diseases [CHD] and outcomes were analyzed
Result: Twenty-nine children with Noonan's syndrome; 15 [52%] males and 14 [48%] females were included in the study from 2005 to 2018. Pulmonary valvular stenosis, 21 [72%], was the most common cardiac anomaly followed by HOCM, 5 [17%]. Mitral valve tissue was found in two [7%] patients. Severe obstruction to the left ventricular outflow by accessory mitral tissue was identified in one [3%] patient which required surgery
Conclusion: Cardiac defects are common in NS. Left outflow tract obstruction due to accessory mitral valve tissue is rare; however, it is a significant anomaly and if not specifically looked for on echocardiography, it could be missed