Abstract
Trisomy 21, Down syndrome, is one of a number of chromosomal abnormalities associated with congenital heart disease. Recent studies indicate that approximately 5% of all congenital heart defects are associated with some form of chromosomal abnormality, the majority of which are Down syndrome. Reports of the incidence of congenital heart disease in patients who have Down syndrome have varied, but it is commonly accepted to be 50%. Endocardial cushion defect and ventricular septal defects both have been reported as the "most common," but the majority of investigators accept the endocardial cushion defect as being the more frequent. The association between endocardial cushion defects and Down syndrome is so striking that when an endocardial cushion defect is diagnosed in an infant, the possibility of Down syndrome always should be considered.
Highlights
Down syndrome remains the most common chromosomal abnormality in live-born infants in the world today [1]
We focus mainly on atrioventricular septal defect (AVSD), which accounts for 30–40% of all cardiac defects in Down syndrome patients
Mutations in the cell adhesion molecule cysteine-rich epidermal growth factor-like domain (CRELD) 1 on chromosome 3 have been implicated in the genetics of congenital heart disease (CHD) in Down syndrome and correspond to one of the specific genetic loci identified for AVSD [6]
Summary
Down syndrome remains the most common chromosomal abnormality in live-born infants in the world today [1]. The association between Down syndrome and congenital heart disease (CHD) is well known. It is widely recognized that CHD contributes significantly to the morbidity and mortality of children with Down syndrome. Despite this there continues to be reports of children with Down syndrome who present with serious CHD too late for the best chance of a good cardiac outcome [2]. We discuss the incidence and main types of CHD occurring in the setting of Down syndrome. We focus mainly on atrioventricular septal defect (AVSD), which accounts for 30–40% of all cardiac defects in Down syndrome patients. We review genetic consideration and discuss the principles of surveillance for cardiac disease in this population
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