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Congenital heart diseases and other major anomalies in patients with Down syndrome

Fuad I Abbag1

  • 1Department of Child Health, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia. fuadabbag@yahoo.com

Saudi Medical Journal
|February 28, 2006
PubMed

Insights

Congenital heart diseases (CHDs) affect over 60% of Down syndrome (DS) patients, with ventricular septal defect being most common. Early screening and intervention are crucial for improving survival rates in DS patients with anomalies.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Down syndrome (DS) is associated with a high incidence of congenital anomalies.
  • Congenital heart diseases (CHDs) are particularly prevalent in DS patients.
  • Understanding the spectrum of these anomalies is crucial for patient management.

Purpose of the Study:

  • To determine the frequency and types of CHDs and other congenital anomalies in Down syndrome patients.
  • To assess the short-term survival rate of DS patients with congenital anomalies.
  • To identify key anomalies and guide early screening protocols.

Main Methods:

  • Retrospective review of 98 Down syndrome patients.
  • Analysis of clinical notes, echocardiography reports, and operative records.
  • Follow-up period averaging 30 months.

Main Results:

  • Congenital heart diseases (CHDs) were identified in 61.3% of patients.
  • Ventricular septal defect (VSD) was the most frequent CHD (33.3%).
  • Gastrointestinal anomalies were most common noncardiac anomalies (22.4%), including duodenal atresia and imperforate anus.

Conclusions:

  • Ventricular septal defect (VSD) is the most common CHD in Down syndrome (DS) patients.
  • Gastrointestinal anomalies are the most frequent noncardiac anomalies in DS.
  • Early echocardiographic screening is recommended to prevent complications like inoperable pulmonary vascular disease (OPVD), and early intervention is vital for improving survival in DS patients with congenital anomalies.
Abstract

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