الملخص
Background: Down’s syndrome (DS) or trisomy 21 is a chromosomal disorder frequently associated with a varied combination of morphological and structural birth defects. Individuals with Down syndrome are more prone to congenital heart defects such as atrioventricular septal defects (ASD), ventricular septal defects (VSD), isolated secundum atrial septal defects. Congenital and acquired gastrointestinal anomalies and hypothyroidism are common in patient with DS.
Aims: To measure the frequency of congenital heart disease (CHD) among study population, to categorize CHD according to their anatomical location and to demonstrate socio-demographic characteristics of Down syndrome patients.
Methods: Case series study design was conducted in Mosul over one year period starting from the 1st of Dec. 2011 to the 30th of Nov. 2012. Parents have been intervened by one of the investigators, and a specially designed questionnaire form were completed to each patient.
Echocardiography have been conducted to all patients included in the study by a qualified pediatric cardiologist in Echo Unit- Khansaa Teaching Hospital, the echo result was recorded in the questionnaire form. Analysis of the data was conducted by using SPSS, and excels computer systems; simple rates and ratios were calculated in order to describe the study findings.
Results: The present study includes a total of 69 patients diagnosed with Down’s syndrome. Two thirds of study population was below six months of age. Male gender constitutes 69.6% of study population with male to female ratio 1:0.44. 39.2% of mothers are in age group ≥40 years. Fifty patients (72.5%) with DS diagnosed to have CHD by echocardiography. ASD was the most common defect and was diagnosed among 30% of patients, followed by complete AV canal and VSD which constitutes 20% each. 14.5% of patients with DS have extra cardiac anomalies and GIT anomalies were the most frequent one.
Conclusion: The incidence of congenital heart disease in patients with Down’s syndrome was high in this study (72.5%). ASD was the most frequent form observed.
.