Congenital Heart Malformation
Mostrando 13-24 de 31 artigos, teses e dissertações.
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13. Embolisation procedures in congenital heart disease.
Eight therapeutic embolisation procedures were performed by the transcutaneous catheter technique in seven patients with congenital heart disease. After surgical correction of tetralogy of Fallot (four patients), catheter embolisation was used to occlude two large aortopulmonary collaterals (one patient), three small aortopulmonary collaterals (one patient),
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14. THE FAMILIAL INCIDENCE OF CONGENITAL MALFORMATION OF THE HEART
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15. Association of Congenital Malformation of the Heart with Birth Rank and Maternal Age
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16. Dermatoglyphs in congenital heart disease.
The palmar dermatoglyphs of 800 patients with anatomically proven congenital heart disease were compared with prints from 1000 controls. A review of the previous studies revealed major technical deficiencies, and the present study failed to confirm most of the previously reported positive findings. An overall increase in the incidence of hypothenar patterns
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17. Complex cardiac malformation in a case of trisomy 9.
A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skeletal, genital, and renal systems. There is no evidence for a
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18. Coarctation of the aorta in Kabuki syndrome.
The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously report
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19. Nomenclature and classification of congenital heart disease.
At present there is no universally accepted nomenclature for congenital cardiac malformations. Much of the controversy results from failure to distinguish the structural connections of the heart from the morphology and spatial relations of its components. The confusion is compounded by an abundance of individual definitions, many of them speculative. The pre
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20. Double outlet left ventricle: diagnosis with magnetic resonance imaging.
A complex congenital cardiac malformation in a female patient was evaluated several times by angiocardiography and echocardiography in childhood but a definite diagnosis was not established. Segmental analysis of the heart and the great vessels by magnetic resonance imaging when the patient was 34, however, showed a double outlet left ventricle in which the
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21. Tetrasomy 9p confirmed by GALT.
We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing
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22. Radial aplasia and chromosome 22q11 deletion.
We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our
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23. Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.
A blind study was designed to test the hypothesis that some persons with a relatively rare cardiac malformation, pulmonary atresia with ventriculoseptal defect (PA/VSD), have a recognisable phenotype. Fourteen patients with cyanotic congenital heart lesions were examined by dysmorphologists blinded to the type of cardiac malformation. Six children were judge
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24. Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy.
Successful fetoscopy using a 9 mm laparoscope was carried out on an 18-week pregnancy of a healthy woman who had had two previous male infants with bilateral double big toes, bilateral ulnar supernumerary digits associated with short segment Hirschsprung's disease, and ventricular septal defect of the heart, a syndrome apparently not previously described. Th