The Types of Congenital Heart Disease in Down Syndrome Patients: Single-center Review of Cases in Benghazi, Libya

• Hanan Mukassby

  Department of Pediatric, Faculty of Medicine, University of Benghazi, Libya

  Author

• Hala A. Ammar

  Department of Pediatric, Faculty of Medicine, University of Benghazi, Libya

  Author

• Salma M. Salem

  Department of Statistics, Fac-ulty of Sciences, The Bright Star University, Benghazi, Libya

  Author

• Najat El-Rugige.

  Department of Pediatric, Faculty of Medicine, University of Benghazi, Libya

  Author

• Hana Saeid Abdulali,

  Almarj Teaching Hospital, Faculty of Medicine-Almarj, University of Benghazi, Libya

  Author

• Rasmia H. Feituri

  Department of Pediatric, Faculty of Medicine, University of Benghazi, Libya

  Author

Congenital heart disease (CHD) is a primary cause of mortality among children with Down syndrome (DS). CHD prevalence and types in DS vary worldwide, likely influenced by socio-demographics, genetics, and geography. This study evaluates CHD occurrence and types among children with DS in eastern Libya from 2010 to 2017. Of 181 children with DS examined via echocardiogram, 67 (37%) had normal cardiac anatomy, while 114 (63%) had CHD. Among the CHD cases, 88 (77%) had single cardiac anomalies, and 26 (22.8%) had multiple defects. The most common single defect was atrial septal defect (ASD), present in 39/114 (34%), followed by an atrioventricular septal defect (AVSD) in 23/114 (20%) and ventricular septal defect (VSD) in 11/114 (6.9%). Patent ductus arteriosus (PDA) was identified in 5 cases (4%), tetralogy of Fallot (TOF) in 4 cases (3.5%), mitral regurgitation (MR) in 1.7%, aortic regurgitation (AR) in 0.9%, Ebstein's anomaly in 0.9%, and double outlet right ventricle (DORV) in one case (0.9%). This study supports that CHD distribution in DS varies by ethnicity and region, with ASD being the most common. No association with maternal age was found. Paternal consanguinity in tribal societies may contribute to chromosomal abnormalities and CHD.

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