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  • Title: Heart disease in Turner's syndrome.
    Author: Mazzanti L, Prandstraller D, Tassinari D, Rubino I, Santucci S, Picchio FM, Forabosco A, Cacciari E.
    Journal: Helv Paediatr Acta; 1988 Aug; 43(1-2):25-31. PubMed ID: 3170246.
    Abstract:
    Fifty-five 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 17%. When compared with the general population, a significantly higher incidence was present only for aortic coarctation and partial anomalous pulmonary venous drainage (p less than 0.001). Among cardiac anomalies in Turner's syndrome patients, aortic malformations (aortic coarctation, aortic stenosis, bicuspid aorta) are the most frequent, followed by partial anomalous pulmonary venous drainage, the incidence of which has been much higher than that previously reported. We have observed that the most severe malformations are preferably found in 45,X, while the ring pattern is characterized by a very high incidence of bicuspid aorta. No anomaly was found in the patients with X isochromosome.
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