UNLABELLED: 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.
UNLABELLED: 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.
Authors: M Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola Journal: Eur J Pediatr Date: 2006-05-30 Impact factor: 3.183
Authors: Maria Cristina Digilio; Francesca Romana Lepri; Maria Lisa Dentici; Alex Henderson; Anwar Baban; Maria Cristina Roberti; Rossella Capolino; Paolo Versacci; Cecilia Surace; Adriano Angioni; Marco Tartaglia; Bruno Marino; Bruno Dallapiccola Journal: Eur J Hum Genet Date: 2012-07-11 Impact factor: 4.246
Authors: M Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola Journal: Eur J Pediatr Date: 2007-08-29 Impact factor: 3.183