Cardiac Complications in Trisomy 21 Patients in a Secondary Hospital: A Descriptive Study

TL;DR

This study examines heart defects in Down syndrome patients in Saudi Arabia, finding a high prevalence of specific cardiac anomalies and the need for early intervention.

Contribution

The study provides new regional data on cardiac complications in trisomy 21 patients, emphasizing patterns and outcomes specific to Saudi Arabia.

Findings

72.7% of trisomy 21 patients had diagnosed heart defects via echocardiography.

Patent ductus arteriosus was the most common defect, followed by atrial and atrioventricular septal defects.

32.3% of patients died, highlighting the need for improved early diagnosis and management.

Abstract

This retrospective study addresses the intersection of Down syndrome (DS) and congenital heart defects (CHD), including the prevalence and characteristics of CHD in trisomy 21 patients at a secondary hospital in the Eastern Province of Saudi Arabia. The study investigated the electronic medical records retrieved from the Qatif Central Hospital database, specifically targeting individuals diagnosed with DS (identified by the International Classification of Diseases, Tenth Revision (ICD-10) code Q90.9) between March 2012 and March 2022. The primary aim was to detect cardiac anomalies diagnosed via echocardiography performed at the hospital, along with subsequent follow-up assessments and documented patient outcomes.

Among the 161 patients reviewed, the study revealed a significant prevalence of diagnosed heart defects through echocardiograms, constituting approximately 72.7%. Notably, patent ductus arteriosus was the most common condition, found in 29.81% of cases, followed by atrial septal defect (27.95%) and atrioventricular septal defect (17.39%).

Among the study participants, 22.98% required surgical intervention. Unfortunately, mortality impacted 32.3% of individuals, while the majority (60.87%) remained alive. In addition, a small percentage (6.83%) discontinued follow-up within our center.

This study contributes significant data on cardiac anomalies in DS patients in Saudi Arabia, highlighting a high prevalence of CHD with specific patterns of anomalies. The need for early diagnosis, timely surgical intervention, and ongoing management is evident. These findings provide a foundation for improving clinical practices and shaping public health policies tailored to the needs of this population in Saudi Arabia and similar regions.

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