Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children’s Hospital, Lahore, Pakistan

Özet

Down syndrome is one of the main causes of intellectual disability in children.It occurs in every community and ethnic group. Several co-morbid conditionsare associated with this syndrome. The present study was conducted todetermine the frequency of congenital heart disease and thyroid dysfunctionin a group of children affected with this genetic disorder. It was a record basedretrospective study. A child having specific clinical features and chromosomalanalysis showing an extra chromosome 21 was diagnosed as having Downsyndrome. Diagnosis of congenital heart disease was based upon results ofechocardiography. Thyroid dysfunction was diagnosed when either or bothtetraiodothyronine and thyroid-stimulating hormone serum levels wereabnormal. Three hundred and fifty cases were enrolled in the study accordingto the preset criteria for Down syndrome. Two hundred and ten (60%) weremales and 140 (40%) females showing male to female ratio as 1.5 to 1. Majorityof the children (55.1%) presented between 7 months and 24 months of age.Congenital heart defects were found in 41.8% of the cases. Ventricular septaldefect was the most common, 41%. Thyroid dysfunction was found in 22%(n=60) of the cases of which 5.9% (n=16) had hypothyroidism. In conclusion,the frequency of congenital heart disease and thyroid dysfunction in Downsyndrome children is high. Early referral of these children to tertiary healthcare facilities is emphasized as timely detection and management of these comorbid conditions will help in reducing the morbidity and mortality in thisgroup of children.