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.