Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience?

Area of Science:

• Pediatric Cardiology
• Genetics
• Congenital Abnormalities

Background:

• Children with Down syndrome (DS) exhibit a high incidence of congenital heart disease (CHD), ranging from 40% to 50%.
• Understanding the specific patterns of CHD in this population is crucial for diagnosis and management.

Purpose of the Study:

• To determine the distribution and frequency of congenital heart disease (CHD) patterns in Libyan children diagnosed with Down syndrome (DS).

Main Methods:

• A retrospective review of patients with DS referred to a cardiology clinic from January 1995 to December 2008.
• Analysis of patient data to identify the types and prevalence of cardiac lesions.

Main Results:

• Out of 1,193 reviewed patients with DS, 537 (45%) had associated CHD.
• A single cardiac lesion was present in 65% of patients, while 35% had multiple lesions.
• The most common isolated cardiac lesion was atrial septal defect (ASD) (23%), followed by atrioventricular septal defect (AVSD) (19%), and ventricular septal defect (VSD) (14%).

Conclusions:

• Atrial septal defect (ASD) emerged as the most prevalent cardiac lesion among Libyan children with Down syndrome (DS).
• The observed distribution of CHDs in this cohort aligns with international findings.
• Further research is needed to compare the frequency of these CHDs with international rates.