Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal☆,☆☆
Section snippets
METHODS
From January 1986 to December 1998, 157 consecutive subjects with NS underwent genetic and cardiac evaluation at our hospital. In 136 children the diagnosis of CHD was made (Table I). There were 72 male subjects (53%) and 64 female subjects (47%). Their age ranged between 0.1 and 21.3 years (mean age ± SD, 5.98 ± 4.87 years). Clinical and cardiologic data were available for all patients and were retrospectively collected. The clinical assessment included family history and complete physical
Types of CHD
The prevalence of pulmonary valve stenosis with or without dysplasia of the leaflets, hypertrophic cardiomyopathy with or without subaortic obstruction, atrial septal defect, and tetralogy of Fallot (Table I) is similar to that in previously reported series.5, 6, 7, 8, 9, 10, 11 Our experience demonstrates that aortic coarctation16 and anomalies of the mitral valve13 are also quite frequent in this syndrome. In addition, there were 2 cases of pulmonary atresia, and one patient had aneurismal
DISCUSSION
The prevalence of various types of CHD is quite similar in our series (Table I) compared with the previous studies,5, 6, 7, 8, 9, 10 except for the higher prevalence of AVC, left-sided cardiac lesions as aortic coarctation,16 and structural abnormalities of the mitral valve.13 These types of CHD were occasionally reported in subjects with NS.5, 6, 7, 8, 9, 10, 12 The results of this study and the previously reported data12, 13, 14, 15, 16 suggest that anatomic left-sided obstructive lesions are
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Reprint requests: Bruno Marino, MD, Pediatric Cardiology, Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
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0022-3476/99/$8.00 + 0 9/21/101646