More information is needed concerning the rate of recurrence of congenital heart defects (CHD) among the offspring of parents having CHD in order to give better genetic counseling and to understand the disease processes involved. In a previous study, 252 female probands and their 413 progeny have been seen. Currently only 147 male probands and their 293 offsping are being studied. The rates of recurrence are 15.7% in the study of affected women and 12.6%, to date, among the male progeny. The proposed research will continue both the incidence of CHD in offspring and a follow-up study of the progression of cardiac lesions in adults begun as a consequence of examining male probands. The current research will: 1) Enlarge the number of male probands and families to be more comparable to the female study. This includes collecting data by 2 planned trips to 29 families residing outside the state of Connecticut who have agreed to the study but are unable to travel to the research site. 2) Continue to update, by questionnaire, data among the female probands concerning additional pregnancies and their outcome, especially cardiac defects, the current status of the proband's cardiac condition, her family histroy and pedigree similar to that in the male study. 3) Augment information among males with CHD by examining 50 patients not eligible for the paternal study in order to pursue the long term follow-up research of the progression of cardiac lesions in adults. These childless men will be evenly divided among two diagnostic categories found to show changes in adulthood, i.e. aortic obstruction and cyanotic heart defects. Also by questionnaire, the research will explore the influence of cardiac disability on the decision to marry and have children, and problems pertaining to employment and insurability. Finally, the cardiac care and the cause of death of 77 deceased men in this population will be investigated. Thus 1) more valid rates of recurrence of congenital heart defects will be obtained to enable more adequate genetic counseling in the future, 2) better information will result concerning the problems and prognosis of affected adults, with special attention to those with aortic obstructive defects and cyanotic malformations, and 3) identification of cardiac problems overlooked in the adult with CHD may point out the necessity of adequate care by physicians fully conversant with congenital heart disease.
| Whittemore, R; Wells, J A; Castellsague, X (1994) A second-generation study of 427 probands with congenital heart defects and their 837 children. J Am Coll Cardiol 23:1459-67 |
| Whittemore, R (1986) Genetic counseling for young adults who have a congenital heart defect. Pediatrician 13:220-7 |
