Prevalence of congenital heart defects associated with Down syndrome in Korea

Min-A Kim1, You Sun Lee1, Nan Hee Yee2

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Gangnam Severance Hospital, Institute of Women's Medical Life Science, Yonsei University College of Medicine, Seoul, Korea.

Insights

Congenital heart defects (CHD) affect over half of infants with Down syndrome (DS) in Korea. Atrial septal defect is the most frequent type, highlighting the need for targeted cardiac care in this population.

Area of Science:

  • Pediatrics
  • Cardiology
  • Genetics

Background:

  • Congenital heart defects (CHD) are a leading cause of mortality in infants with Down syndrome (DS).
  • Limited data exists on the prevalence and specific types of CHD in infants with DS in Korea.
  • Understanding these patterns is crucial for improving healthcare and outcomes.

Purpose of the Study:

  • To determine the frequency and types of congenital heart defects (CHD) in infants with Down syndrome (DS) in Korea.
  • To establish the current epidemiological status of DS and associated CHD in the Korean population.

Main Methods:

  • Retrospective analysis of a national birth defects survey and medical insurance claims data.
  • Inclusion of data from 2005-2006, encompassing 888,263 total births in Korea.
  • Calculation of prevalence rates for DS and specific CHD types within the DS cohort.

Main Results:

  • The prevalence of Down syndrome (DS) was 4.4 per 10,000 births, representing 1.5% of all identified birth defects.
  • A significant proportion of infants with DS (56.9%) were diagnosed with a congenital heart defect (CHD).
  • Atrial septal defect (30.5%) was the most common CHD, followed by ventricular septal defect (19.3%), patent ductus arteriosus (17.5%), and atrioventricular septal defect (9.4%).

Conclusions:

  • Congenital heart defects are highly prevalent in infants with Down syndrome in Korea, with specific types occurring more frequently.
  • This study provides essential data on the current status of DS and CHD in Korea, informing clinical practice and public health strategies.
  • Further research and targeted interventions are warranted to address the cardiac health needs of infants with Down syndrome.

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