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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.

Among 41 consecutive children with classic Noonan syndrome, 27 patients (66%) presented cardiac anomalies. Eight patients (19.5%) had a congenital anomaly of the mitral valve consisting of 5 with partial atrioventricular canal defect and 3 with anomalous insertion of the mitral valve on the ventricular septum. Five patients (12%) presented with a significant left ventricular outflow tract obstruction caused by the anterior leaflet of the mitral valve: two cases with atrioventricular canal and three cases with isolated anomalous insertion of the mitral valve. Echocardiography is the best tool for the diagnosis. Cardiac defects of patients with Noonan syndrome may be explained on the basis of anomalies of the extracellular matrix involving cardiac valves including the mitral valve. CONCLUSION: In children with Noonan syndrome and left ventricular hypertrophy a careful echocardiographic assessment of the mitral valve should reveal those in whom the left ventricular outflow tract obstruction is anatomical in nature.[1]

References

  1. Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Marino, B., Gagliardi, M.G., Digilio, M.C., Polletta, B., Grazioli, S., Agostino, D., Giannotti, A., Dallapiccola, B. Eur. J. Pediatr. (1995) [Pubmed]
 
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