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Types and Distribution of Congenital Heart Defects in Pediatric Patients with Down's Syndrome: A Retrospective Study
Asmaa Ghmaird1, Tahani Nasser Alrashidi2, Yazeed S Alqahtani1
1Paediatrics, College of Medicine, University of Tabuk, Tabuk, SAU.
Insights
Congenital heart disease (CHD) is common in children with Down syndrome (DS). This study found gender differences in CHD types, with males more prone to atrial septal defects and valvular issues, while females had more ventricular septal defects.
Area of Science:
- Pediatric Cardiology
- Genetics
- Public Health
Background:
- Congenital heart disease (CHD) presents a significant health risk for individuals with Down syndrome (DS).
- Early cardiac anomaly investigation is crucial for all DS patients.
- Understanding CHD patterns in DS is vital for effective management and improved outcomes.
Purpose of the Study:
- To determine the frequency and specific patterns of congenital heart disease (CHD) in children diagnosed with Down syndrome (DS).
- To investigate the Saudi Arabia (SA) region's pediatric cardiology data for DS-related cardiac anomalies.
- To analyze potential associations between gender and specific CHD types in this population.
Main Methods:
- A retrospective chart review of pediatric cardiology patients in Northwest SA from January 2015 to June 2019.
- Inclusion criteria: confirmed diagnosis of Down syndrome (DS) and congenital heart disease (CHD).
- Data analysis focused on identifying common CHD types, lesion combinations, and gender-specific prevalence.
Main Results:
- Out of 851 CHD patients, 53 had DS; 62.3% were male.
- Most diagnoses occurred within the first 28 days of life (67.9%).
- Atrial septal defect (ASD) and patent ductus arteriosus (PDA) were most common isolated lesions. Ventricular septal defect (VSD) prevalence differed by gender: higher in females (p=0.031), while ASD (p=0.019) and valvular anomalies (p=0.033) were more common in males.
Conclusions:
- Patient gender is significantly associated with specific types of congenital heart disease (CHD) in children with Down syndrome (DS).
- Males with DS showed a higher incidence of ASD and valvular anomalies.
- Females with DS exhibited a greater prevalence of VSD, highlighting gender-based variations in CHD patterns within this population.
Abstract:
Background Congenital heart disease (CHD) is common in patients with Down's syndrome (DS), rendering them at risk of significant mortality and morbidity. However, all patients with confirmed DS must undergo further investigation for a cardiac anomaly early in their lives. Objective To define frequency and patterns of CHD among children with DS in Northwest, Saudi Arabia (SA). Methods A five-year chart review study was conducted in Northwest SA between January 2015 and June 2019. We included all children referred to the pediatric cardiology clinic with a confirmed diagnosis of DS and CHD. Children were identified in the clinic's database, and charts were reviewed retrospectively. Results Among 851 patients with CHD, 53 were identified with DS. Male patients represented 62.3%, while female patients represented 37.7%. The median patients' age at the time of diagnosis was two days, with most patients diagnosed before 28 days old (67.9%). This study found that atrial septal defect (ASD) and patent ductus arteriosus (PDA) were the most common isolated lesions (37% of isolated cases), while the most common combined lesions were ASD, ventricular septal defect (VSD), and PDA, as well as combined ASD and VSD. Female gender was significantly associated with higher percentage of VSD (p = 0.031) more than male. While male patients had significantly higher percentages of ASD and valvular anomalies than female patients (p = 0.019 and 0.033, respectively). Conclusions The patient's gender was significantly associated with some types of CHD. Both ASD and valvular lesions were more common among males, while VSD was more common among female patients, no gender differences were detected regarding the other types of CHD.
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