Abstract
BackgroundCongenital 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.ObjectiveTo define frequency and patterns of CHD among children with DS in Northwest, Saudi Arabia (SA).MethodsA 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. ResultsAmong 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).ConclusionsThe 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.
Highlights
Down’s syndrome (DS) is considered as the most frequent chromosomal anomaly to affect newborns, with a global incidence ranging from 1/600 to 1/1000
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
Summary
Down’s syndrome (DS) is considered as the most frequent chromosomal anomaly to affect newborns, with a global incidence ranging from 1/600 to 1/1000. In Saudi Arabia (SA), the incidence of DS is 1/554 for live births [1,2,3] This syndrome results from an additional chromosome 21, known as trisomy 21 [3,4]. DS has been associated with many congenital defects, congenital heart disease (CHD) being one of them [1]. This study should contribute to improving the tools for diagnosis as well as increased awareness for healthcare providers. This highlights our aim to define the frequency and patterns of CHD among children with DS in Northwest SA. Congenital heart disease (CHD) is common in patients with Down’s syndrome (DS), rendering them at risk of significant mortality and morbidity. All patients with confirmed DS must undergo further investigation for a cardiac anomaly early in their lives
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