Recurrence risks of congenital heart disease in a small Island population

Article type: Research Article

Authors: Grech, Victor^; | Savona‐Ventura, Charles

Affiliations: Department Paediatric, St Luke’s Hospital, Malta | Department of Obstetrics and Gynaecology, St Luke’s Hospital, Malta

Note: [] Correspondence to: Victor Grech, Paediatric Department, St Luke’s Hospital, Guardamangia, Malta.

Abstract: The risk of having a child with congenital heart disease is far higher than that of the rest of the population if a parent or a previous sibling has congenital heart disease. Malta is a small Island in the Mediterranean with a relatively closed population of approximately 370,000. The aim of this study was to test the null hypothesis that such a small population would produce higher recurrence rates in siblings and parents of patients with congenital heart disease due to a potential concentration of gene(s) which may predispose to these malformations. There were 231 patients diagnosed as having congenital heart disease born between 1990–1994 from a birth cohort of 26,117 live births. The recurrence rate for siblings was 6%, while 2% had affected parents. These rates are similar to those found for larger populations. Therefore, the population of Malta is not small enough to concentrate any gene or genes which predispose to the development of congenital heart disease and the null hypothesis is accepted.

Keywords: Heart‐defects, congenital, epidemiology, genetics, recurrence

Journal: International Journal of Risk and Safety in Medicine, vol. 11, no. 3, pp. 171-177, 1998