[The Turner syndrome and cardiovascular changes].
Nineteen consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 26%. Other cardiovascular pathologies (long QT syndrome or systemic hypertension) were found in two patients. When compared with the general population, a higher incidence was present for all types of congenital heart diseases observed. Among cardiac anomalies in Turner's patients, aortic malformations (aortic coarctation and bicuspid aorta) were the most frequent, followed by patent ductus arterious and pulmonary valve stenosis. We have observed that the most severe malformations were preferably found with the 45,X karyotype. Pulmonary valve stenosis was found in a mosaicism 45,X/46,XX case. No anomaly was found in patients with X isochromosome. The ring pattern was not found in our series.
Couceiro Gianzo
J A
JA
Departamento de Pediatría, Hospital General de Galicia, Santiago de Compostela.
Pérez Cobeta
R
R
Fuster Siebert
M
M
Barreiro Conde
J
J
Pombo Arias
M
M
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009006:Monosomy / Q000235:genetics; D009030:Mosaicism / Q000235:genetics; D015995:Prevalence; D014424:Turner Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics