FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS

作者：M. Holt, S. Helen Oram · 发表于：Heart · 年份：1960 · DOI：10.1136/hrt.22.2.236 · 被引用次数：507 · 研究领域：Congenital Heart Disease Studies、Congenital heart defects research、Cardiac Valve Diseases and Treatments

Owing to the increasing success of surgical treatment for congenital cardiac deformities, some patients who would otherwise have died will undoubtedly live to have children.The problem of the inheritance of cardiac anomalies has thus become of greater importance than before.It has always been a question, usually posed by the parents of the defective child, whether or not another sibling would be likely to be similarly affected.With modern surgery a further question arises, namely whether the frequency of the genes responsible may rise in the population.The family reported here is thought to be of sufficient interest to warrant recording, since not only were subjects found with congenital cardiac defects throughout four generations, but these were closely linked with malformations in the skeletal system (Table I).The bony changes mainly TABLE I FAMiLy TREE SHOWING DISTRIBUTION OF ASSOCIATED HEART AND BoNE LESIONS.THERE IS NO CONSANGUINITY.