J Korean Med Sci.  2014 Nov;29(11):1544-1549. 10.3346/jkms.2014.29.11.1544.

Prevalence of Congenital Heart Defects Associated with Down Syndrome in Korea

• Kim MA
• Lee YS
• Yee NH
• Choi JS
• Choi JY
• Seo K

• KMID: 2069937
• DOI: http://doi.org/10.3346/jkms.2014.29.11.1544

Abstract

Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

Keyword

Down Syndrome; Heart Defects, Congenital; Prevalence, Korea

MeSH Terms

Adult
Asian Continental Ancestry Group
Birth Weight
Chromosome Aberrations
Databases, Factual
Down Syndrome/*complications
Ductus Arteriosus, Patent/epidemiology
Female
Gestational Age
Heart Defects, Congenital/*epidemiology/etiology
Heart Septal Defects/epidemiology
Heart Septal Defects, Atrial/epidemiology
Heart Septal Defects, Ventricular/epidemiology
Humans
Male
Prevalence
Republic of Korea/epidemiology

Reference

1. Khoury MJ, Erickson JD. Improved ascertainment of cardiovascular malformations in infants with Down's syndrome, Atlanta, 1968 through 1989. Implications for the interpretation of increasing rates of cardiovascular malformations in surveillance systems. Am J Epidemiol. 1992; 136:1457–1464.

2. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002; 39:1890–1900.

3. Greenwood RD, Nadas AS. The clinical course of cardiac disease in Down's syndrome. Pediatrics. 1976; 58:893–897.

4. Grech V. Epidemiology, and diagnostic and surgical trends in atrioventricular septal defect in Malta. Eur J Epidemiol. 1999; 15:403–405.

5. de Rubens Figueroa J, del Pozzo Magaña B, Pablos Hach JL, Calderón Jiménez C, Castrejón Urbina R. Heart malformations in children with Down syndrome. Rev Esp Cardiol. 2003; 56:894–899.

6. Jacobs EG, Leung MP, Karlberg J. Distribution of symptomatic congenital heart disease in Hong Kong. Pediatr Cardiol. 2000; 21:148–157.

7. Busacca P, Pozzolini A, Minutiello L. Association between parachute mitral valve and Down's syndrome. Report of a case. G Ital Cardiol. 1998; 28:1144–1148.

8. Hoe TS, Chan KC, Boo NY. Cardiovascular malformations in Malaysian neonates with Down's syndrome. Singapore Med J. 1990; 31:474–476.

9. Hamerton JL, Briggs SM, Giannelli F, Carter CO. Chromosome studies in detection of parents with high risk of second child with Down's syndrome. Lancet. 1961; 2:788–791.

10. Castilla EE, Rittler M, Dutra MG, Lopez-Camelo JS, Campaña H, Paz JE, Orioli IM. Survival of children with Down syndrome in South America. ECLAMC-Downsurv Group. Latin American Collaborative Study of Congenital Malformations. Am J Med Genet. 1998; 79:108–111.

11. Frid C, Drott P, Lundell B, Rasmussen F, Annerén G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res. 1999; 43:234–241.

12. Choi JS, Seo K, Han YJ, Lee SW, Bu YK, Lee SW, Shin CW, Yee NH. Congenital anomaly survey and statistics. Seoul: Ministry of Heath & Welfare;2009. p. 306.

13. Han YJ, Choi JS, Seo K, Shin SM, Oh HC, Lee SO, Lee SU, Hong JS, Lee ES, Kim ON. Infant and maternal mortality survey in 2005-2006. Seoul: Korea Institute for Health and Social Affairs, Korean Medical Record Association, Ministry for Health, Welfare and Family Affairs;2008.

14. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010; 88:1008–1016.

15. Morris JK, Alberman E. Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register. BMJ. 2009; 339:b3794.

16. Bittles AH, Glasson EJ. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol. 2004; 46:282–286.

17. Matthews TJ, Hamilton BE. Delayed childbearing: more women are having their first child later in life. NCHS Data Brief. 2009; 1–8.

18. Kwon JY, Park IY, Park YG, Lee Y, Lee G, Shin JC. Korean-specific parameter models for calculating the risk of Down syndrome in the second trimester of pregnancy. J Korean Med Sci. 2011; 26:1619–1624.

19. Park JW, Jun JK, Koo JN, Seo DK, Moon JB, Suh YH, Kim SI, OH KJ, Hong JS, Kim BJ, et al. Prevalence of congenital anomalies in Korea: multi-center study. Korean J Ultrasound Obstet Gynecol. 2011; 13:148–156.

20. Lo NS, Leung PM, Lau KC, Yeung CY. Congenital cardiovascular malformations in Chinese children with Down's syndrome. Chin Med J (Engl). 1989; 102:382–386.

21. Hijii T, Fukushige J, Igarashi H, Takahashi N, Ueda K. Life expectancy and social adaptation in individuals with Down syndrome with and without surgery for congenital heart disease. Clin Pediatr (Phila). 1997; 36:327–332.

22. Tandon R, Moller JH, Edwards JE. Tetralogy of Fallot associated with persistent common atrioventricular canal (endocardial cushion defect). Br Heart J. 1974; 36:197–206.

23. Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, Saker DM. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998; 80:213–217.

24. Park SC, Mathews RA, Zuberbuhler JR, Rowe RD, Neches WH, Lenox CC. Down syndrome with congenital heart malformation. Am J Dis Child. 1977; 131:29–33.

25. Matsuo N, Oshima M, Masuyoshi N, Shimizu K, Okada R. Major and minor anomalies in Japanese children with Down's syndrome. Jpn Heart J. 1972; 13:307–316.