Elsevier

The Journal of Pediatrics

Volume 135, Issue 6, December 1999, Pages 703-706
The Journal of Pediatrics

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal,☆☆

https://doi.org/10.1016/S0022-3476(99)70088-0Get rights and content

Abstract

Objective: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). Study design: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. Results: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. Conclusion: Left-sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS. (J Pediatr 1999;135:703-6)

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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  • Cited by (0)

    Reprint requests: Bruno Marino, MD, Pediatric Cardiology, Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

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