Juvenile colonic polyposis associated with congenital heart disease.
Four members of a family with juvenile colonic polyposis in two generations were examined by the authors. The disease showed a very marked dominant mode of inheritance, not sex-linked, in this family. At the same time, the same members of the family had congenital heart disease, including atrial septal defects and pulmonary stenosis. This disease also resulted from a dominant, highly penetrating gene, not sex-linked. The occurrence of both these hereditary diseases at the same time suggests a close relationship or link between the responsible genes. This combination may represent the emergence of a new syndrome.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003110:Colonic Neoplasms / Q000150:complications* / Q000235:genetics; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications* / Q000235:genetics; D006801:Humans; D007417:Intestinal Polyps / Q000150:complications* / Q000235:genetics; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000151:congenital* / Q000235:genetics; D013577:Syndrome