[Hypertrophic cardiomyopathy associated with Noonan's syndrome and membranous aortic subvalvular stenosis associated with Turner's syndrome. Report of 2 clinical cases].
Cardiovascular anomalies are found in 50% of the cases of Turner's and Noonan's syndromes-diseases with the same phenotype but with a different genotype. In the former, the most common congenital heart diseases are aortic coarctation (30%) and bicuspid aortic valve (34%), while in the latter they are pulmonary valvular stenosis (60%), interatrial septal defect (25%) and obstructive or non obstructive hypertrophic cardiomyopathy (17%). We have described two cases, respectively of Noonan's and Turner's syndrome. The prominent features of the first case are the transmission of the syndrome on the male line, since father and son--the latter being our patient--are affected with the same syndrome, and the occurrence of a non obstructive hypertrophic cardiomyopathy involving both the ventricles, a situation not yet described in Noonan's syndrome. A subvalvular membranous aortic stenosis has instead been found in our patient with Turner's syndrome: this cardiac anomaly has never been described within the aforementioned syndrome in medical literature.
Divisione di Cardiologia A, Ospedale San Camillo, Roma.
E
E
Perrotta Scaravilli
D
D
Pontillo
F
F
Pennacchia
A
A
Boccanelli
C
C
Greco
P
P
Lo Schiavo
D000328:Adult; D001020:Aortic Stenosis, Subvalvular / Q000150:complications*; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications*; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009634:Noonan Syndrome / Q000150:complications* / Q000635:transmission; D010641:Phenotype; D014424:Turner Syndrome / Q000150:complications*
La cardiomiopatia ipertrofica associata alla sindrome di Noonan e la stenosi sottovalvolare aortica membranosa associata alla sindrome di Turner. Rapporto su due casi clinici.