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

Abstract

Down syndrome is one of the main causes of intellectual disability in children. It occurs in every community and ethnic group. Several co-morbid conditions are associated with this syndrome. The present study was conducted to determine the frequency of congenital heart disease and thyroid dysfunction in a group of children affected with this genetic disorder. It was a record based retrospective study. A child having specific clinical features and chromosomal analysis showing an extra chromosome 21 was diagnosed as having Down syndrome. Diagnosis of congenital heart disease was based upon results of echocardiography. Thyroid dysfunction was diagnosed when either or both tetraiodothyronine and thyroid-stimulating hormone serum levels were abnormal. Three hundred and fifty cases were enrolled in the study according to the preset criteria for Down syndrome. Two hundred and ten (60%) were males and 140 (40%) females showing male to female ratio as 1.5 to 1. Majority of 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 septal defect 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 Down syndrome children is high. Early referral of these children to tertiary health care facilities is emphasized as timely detection and management of these comorbid conditions will help in reducing the morbidity and mortality in this group of children.

The factors associated with transient hypothyroxinemia of prematurity

“…Congenital heart diseases (5.5%) are frequently associated with congenital hypothyroidism sugggesting common genetic mechanisms involved in thyroid and heart development [ 30 ]. The association of CHD and thyroid disorder in Down syndrome, which is a genetic disorder, has been well defined [ 31 ]. In the recent study of HJ Lee et al, it was found that the coexistence of CHD and transient thyroid disorders is approximately 50% [ 32 ].…”

Frequency of Thyroid Dysfunction and Congenital Heart Defects in Subjects with Down Syndrome

“…For detecting hyperthyroidism T4 was high with low or normal TSH. 20,23 All the DS children were sent to the pediatric cardiology department for echocardiography by a consultant cardiologist for the diagnosis of CHD and identifying its type. Wherever multiple cardiac lesions were found in the same patient, the leading lesion was taken as the main lesion.…”

“…19 However, In Pakistan prevalence is reported at 41.8%. 20 Regarding frequency and association of CHD, Sanaa Benhaourech described atrioventricular septal defect (AVSD) (42.2%) as the most common CHD, followed by ventricular septal defect VSD (31.3%). 21 This study aimed to determine the frequency and types of CHD and thyroid dysfunction among DS children in south Punjab and to compare our data with other studies.…”

Levothyroxine in Children

“…Hyperprolactinaemia is also strongly associated with thyroid status: a cross-sectional study of 602 children found this disorder on 32% of children with subclinical hypothyroidism and 52% of children with overt hypothyroidism [45]. Finally, the prevalence of hypothyroidism may be higher in children with Down syndrome or Turner Syndrome, compared with the general population [46][47][48][49][50][51].…”