CAUSATIVE FACTORS UNDERLYING CONGENITAL HEART MALFORMATIONS

[摘要] A study was made of 205 cases of patent ductus arteriosus in which the diagnosis had been confirmed at surgery. Detailed family information was obtained in 117 cases, of which 105 were "uncomplicated" cases, four had a history of maternal Rubella, and eight had an additional cardiac defect but a negative history for maternal Rubella. In the "uncomplicated" group, there were 145 later-born siblings, two of whom had patent ductus arteriosus. No cases of congenital heart defects were reported among the parents or the 25 children of patent ductus arteriosus patients.No cases of cousin marriage were reported in the parents of the 111 cases for whom this information was available. Patent ductus arteriosus occurred in five sets of twins, all discordant with respect to the defect, and including two definitely uniovular pairs, two probably uniovular pairs, and one probably binovular pair. No evidence was found of a birth order effect for patent ductus arteriosus cases, but a definite seasonal incidence was noted for cases associated with maternal Rubella or having additional cardiac defects. The incidence of patent ductus arteriosus in the general population was estimated to lie between one in 2,500 and one in 5,000, with the true figure probably lying closer to the former.It was concluded that there is a definite familial tendency to the occurrence of patent ductus arteriosus. The risk figure for the recurrence of congenital heart defects in later-born siblings is of the order of one in 50. It was suggested that patent ductus arteriosus is not an entity of single etiology, but that it depends on various prenatal as well as possible natal factors.

[学科分类] 儿科学