DownSyndrome (DS) or trisomy 21 is a chromosomal disorder associated with a varied
combination of morphological and structural birth defects. These defects
include congenital mental disability, hypotonia, characteristic body features,
congenital heart defects, Hirschsprung’s diseases and others. The frequency and
severity of these morphological and functional defects vary significantly among
affected individuals. DS affects about one in 700 live births.
Congenitalheart defect disorder or CHD is a common defect among newborn infants which
can be caused by environmental or genetic factors. About 50% of babies with DS
are born with CHD, which is a much higher percentage compared to the number of
children without DS who are born with CHD which is approximately 1%. The most
common CHD seen in infants with DS is an Atrioventricular Septal Defect (AVSD),
or AV canal. Other heart defects seen in infants with DS include Ventricular
Septal Defects (VSD), Atrial Septal Defects (ASD), Tetralogy of Ffallot (TOF)
and Patent Ductus Arteriosus (PDA). However, the exact etiology of CHD in DS
remains poorly understood.
Fewdecades ago the frequency of CHD in DS was estimated to be approximately 20%,
but now with the use of better diagnostic tool, the frequency estimated has
increased to 50%. The most common CHD in the western literature is
atrioventricular septal defects.
This study was conducted to evaluate the
frequency of various types of CHD in DS children from Indian origin.
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