[Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].
A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.
Conte
M R
MR
Istituto di Medicina e Chirurgia Cardiovascolare, Università degli Studi, Torino.
Bonfiglio
G
G
Orzan
F
F
Mangiardi
L
L
Camaschella
C
C
Alfarano
A
A
Brusca
A
A
D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics*; D004452:Echocardiography; D005260:Female; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics