Abstract

The prevalence of congenital heart disease has accounted for nearly one-third of all significant congenital anomalies worldwide. The first report about an association between cardiac anomalies and Down Syndrome was in (1876). Ten years after discovering of Down Syndrome and the credit of association between congenital cardiac anomalies and mongolism was suggested in (1894) by Garrod. There many studies performed to identify a correlation between genotype and phenotype in Down Syndrome, little is known about cardiovascular phenotype in Down Syndrome. Congenital heart disease is considered one of the highest causes of mortality and morbidity in Down Syndrome compared to patients with the same lesion of non-down. There is a big debate about surgical management and considered them as risk factors of surgery with precaution and recent technology, Down Syndrome considered as a normal patient in prognosis. This chapter aimed to shed the light on congenital heart disease in Down Syndrome and current knowledge in specific mutations associated with them and how the effect of innovative technology and management to treat them end at the same outcome and sometimes better based on recent research and Scoring System.

Highlights

  • 1.1 History of congenital heart disease in Down SyndromeDown Syndrome had a widespread revolutionary widespread interest since the days of Langdon Down’s pioneering work in 1866 [1]

  • We found that Mmu16 is the only mouse chromosome associated with heart defects in Down Syndrome (DS) [14, 15]

  • By integrating our information from segmental trisomic mouse models with DSCHD [16, 21], we integrated a further limit on this region in a particular map (Figure 3B); we propose a 1.77-Mb DSCHD critical region, which contains ten genes, including the promoter and a portion of the DS cell adhesion molecule (DSCAM) gene

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Summary

History of congenital heart disease in Down Syndrome

Down Syndrome had a widespread revolutionary widespread interest since the days of Langdon Down’s pioneering work in 1866 [1]. In the July 1876 issue of the Journal of Mental Science, other reports on the same subject described the distinguishing features of an apparently new class of “idiots”, and the first graphical illustration in the medical literature of DS was drawn in an article by Fraser and Mitchell. This provided the first pictorial sketch of the facial features of a person with DS [3]. In While there were fewer people, the rate of Down births would not have changed appreciably This suggested that many Down children in the prior centuries did not survive the neonatal period.

Causative gene mutation
Genes associated with causing CHD
Diagnostic evaluation
Complete atrioventricular septal defect
Partial atrioventricular septal defects
Tetralogy of Fallot
Tetralogy of Fallot combined with AVCanal
RACHS-score
Aristotle score
Findings
Propensity score matching analysis
Full Text
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