Conflict of interest: none
Risk and protective factors in the origin of conotruncal defects of heart—a population-based case–control study
Article first published online: 15 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2444–2452, October 2013
How to Cite
2013. Risk and Protective Factors in the Origin of Conotruncal Defects of Heart- a Population-Based Case–Control Study. Am J Med Genet Part A 161A:2444–2452., , , , .
- Issue published online: 17 SEP 2013
- Article first published online: 15 AUG 2013
- Manuscript Accepted: 12 JUN 2013
- Manuscript Received: 3 MAR 2013
- Hungarian Egészségügyi Tudományos Tanács Pályázati Irodája (Grant Office of Scientific Committee of Health Ministry)
- Versys Clinics, Human Reproduction Institute, Budapest, Hungary
- congenital heart defects;
- conotruncal defects;
- truncus arteriosus;
- d-transposition of great arteries;
- tetralogy of Fallot;
- double-outlet right ventricle;
- high fever;
- folic acid;
- population based case–control study
Congenital heart defect (CHD) cases have been evaluated together as a group in some previous epidemiological studies. However, different CHD entities have different etiologies, and the underlying causes are unclear in the vast majority of patients. Thus the aim of this study was to analyze the possible association of different maternal diseases with the risk of four types of conotruncal defects (CTD), that is, truncus arteriosus, d-transposition of the great arteries, tetralogy of Fallot, and double-outlet right ventricle based on autopsy or surgical report diagnosis. Acute and chronic diseases with related drug treatments and peri-conceptual folic acid or multivitamin supplementations were compared in mothers of 598 CTD cases, of 902 matched controls, and 38,151 population controls without any defects, and with 20,896 malformed controls with other isolated non-cardiac defects in the population-based large dataset of the Hungarian Case–Control Surveillance of Congenital Abnormalities. Mothers who had medically recorded influenza and the common cold with secondary complications in the prenatal maternity logbook during the second and/or third gestational months were associated with a higher risk of CTD (OR with 95% CI: 2.22, 1.19–3.88). The common denominator of these maternal diseases may be high fever, which could be prevented by antifever therapies. On the other hand, high doses of medically recorded folic acid in early pregnancy were able to reduce the birth prevalence of CTD (OR with 95% CI: 0.54, 0.39–0.73), and this reduction was significant in transposition of the great arteries (0.46, 0.29–0.71) as well. In conclusion, high fever related maternal diseases may have a role in the origin of CTD, while high doses of folic acid in early pregnancy were able to reduce of CTD, particularly transposition of great vessels. © 2013 Wiley Periodicals, Inc.