Ocena przebiegu klinicznego wad serca u dzieci z zespołem Noonan

Tomasz Floriańczyk, Agnieszka Tomik, Sylwia Łuszczyk, Małgorzata Gołąbek-Dylewska, *Bożena Werner

Summary
Introduction. Noonan syndrome is autosomal dominant anomaly characterized by variable, multiple, congenital malformations.
Aim. The aim of the study was an evaluation of congenital cardiovascular defects in children and teenagers with Noonan syndrome.
Material and methods. Study group consisted of 20 children who were diagnosed with Noonan syndrome based on typical phenotype symptoms. In addition in 3 patients diagnosis was confirmed using genetic test. In all patients physical examination, ECG tracing, X-ray picture of the chest, echocardiographic examination and 24-hours ECG Holter monitoring were performed.
Results. Pulmonary valvular stenosis was a major cardiovascular anomaly in study group and was diagnosed in 16 patients. In 10 of them the atrial septal defect was a coexisting anomaly. The balloon pulmonary valvuloplasty was performed in 4 patients. Satisfactory result of valvuloplasty was found in one case in contrary to the remain 3 with dysplastic pulmonary valves and coexisting supravalvular stenosis. Hypertrophic cardiomyopathy with left ventricular outflow tract obstruction was diagnosed in 1 patient.
Conclusions. Children suspected of Noonan syndrome require pediatric cardiologist opinion and in the case of confirmed diagnosis of Noonan syndrome permanent cardiologic care is mandatory.

To jest tylko fragment artykułu. Aby przeczytać całość, przejdź do Czytelni medycznej.