THE PREVALENCE OF CONGENITAL HEART DISEASES AMONG ROMANIAN CHILDREN — EXPERIENCE OF A SINGLE CENTER

Aim. Congenital heart defects (CHD) are the leading cause of infant mortality becoming an important public health problem. Time trends in CHD by specific phenotype and with long follow-up time are rarely available for a large pediatric population.

Material and methods. We present the prevalence of CHD over the past 5 years among Romanian children. Individuals with CHDs were classified by several criteria including type of pathology, association of the pathology with various syndromes and abnormalities, postnatal complications or treatment.

Results. The overall CHD birth prevalence increased. Generally, prevalence increased for defects diagnosed in infancy and preschoolers patients. Isolated septal defects such as atrial septal defect (ASD) was present in 29,69% of patients while transposition of the great vessels was present in 1,87% of children, respectively. Among the severe defects, tetralogy of Fallot — atresia/hypoplasia of the pulmonary artery association showed the largest prevalence. Considering the syndromatic CHD, the highest incidence (78,78%) was recorded for Down syndrome, followed by Turner syndrome. The most frequent postnatal complication in CHD patients was cardiomegaly, followed by pulmonary hypertension. Only 29,94% of the patients underwent corrective surgery, the rest remained on medication. The highest incidence rate was recorded for tetralogy of Fallot (42,85%), followed by isolated septal defects. On average, tetralogy of Fallot cases were operated on 16,6 months after diagnosis while transposition of the great vessels after 2,5 months.

Conclusion. The increasing prevalence of CHDs reported was confirmed in the present study. This is mostly due to an increasing number of isolated septal defects diagnosed in infancy. In the future, the etiology of CHD needs to be further clarified and prospective birth defect registries covering the a large population are needed to determine the exact birth prevalence of CHD.

1. Dolk H, Loane M, Garne E, for the European Surveillance of Congenital Anomalies (EUROCAT) Working Group. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation 2011; 123:841–9.

2. Tennant PW, Pearce MS, Bythell M, Rankin J. 20-year survival of children born with congenital anomalies: a population-based study. Lancet 2010; 375:649–56.

3. Bernier PL, Stefanescu A, Samoukovic G, Tchervenkov CI. The challenge of congenital heart disease worldwide: epidemiologic and demographic facts. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2010; 13:26–34.

4. Khairy P, Ionescu-Ittu R, Mackie AS, et al. Changing mortality in congenital heart disease. J Am Coll Cardiol 2010; 56:1149–57.

5. Williams RG, Pearson GD, Barst RJ, et al. National Heart, Lung, and Blood Institute Working Group on research in adult congenital heart disease. Report of the National Heart, Lung, and Blood Institute Working Group on research in adult congenital heart disease. J Am Coll Cardiol. 2006; 47:701–7.

6. Yang Q, Chen H, Correa A, et al. Racial differences in infant mortality attributable to birth defects in the United States, 1989–2002. Birth Defects Res Part A Clin Mol Teratol. 2006; 76:706–13

7. Hoffman JI. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 1995; 16:103–13.

8. Van der Bom T, Zomer AC, Zwinderman AH, et al. The changing epidemiology of congenital heart disease. Nat Rev Cardiol 2011; 8:50–60.

9. Jenkins KJ, Correa A, Feinstein JA, et al. Noninherited risk factors andcongenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115:2995–3014.

10. Germanakis I, Sifakis S. The impact of fetal echocardiography on theprevalence of liveborn congenital heart disease. Pediatr Cardiol 2006; 27:465–72.

11. Kirby ML. Cardiac development. Oxford: Oxford University Press; 2007.

12. International Clearinghouse for Birth Defects. Surveillance and research. Available at: http://www.icbdsr.org.

13. Hitz MP, Lemieux-Perreault LP, Marshall C, et al. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet. 2012.