[Congenital cardiopathies and associated bone abnormalities].
The study included six infants and one adult of congenital cardiovascular anomalies and malformations of the osseum system. In three cases with family pedigree studied, an autosomal dominant character was found; all of them had interauricular defect septum and characteristic congenital deformities of the thumb with polydactyly and one with affection in upper and lower extremities. In the other four patients without family study, interauricular septal defect and transposition of vessels was proved; the osseum malformations were radium agenesia, polydactyly and thumb agenesia. The importance of the genes and the environmental participation and etiopathogenic mechanism are discussed. The prognostic is focussed within type and severity of the congenital cardiac defect; in this study, two infants died within 3 and 7 months of heart failure. These congenital malformations were proved to have autosomal dominant inheritance; we recommend the familial study in all these cases.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics; D002648:Child; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics
Cardiopatías congénitas y malformaciones óseas asociadas.