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Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects
1Pediatric Cardiology Bambino Gesú Hospital, Rome, Italy.
Insights
Children with Down's Syndrome (trisomy 21) have a high incidence of congenital heart defects, particularly atrioventricular canal defects. Further research is needed to understand the genetic basis of these heart conditions.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Developmental Biology
Background:
- Congenital heart disease (CHD) occurs in 40-50% of children with Down's Syndrome (trisomy 21).
- Specific CHDs like atrioventricular canal, ventricular septal defect, and tetralogy of Fallot are common in trisomy 21.
- Certain CHDs, including transposition of the great arteries, appear less frequent in this population.
Purpose of the Study:
- To summarize the spectrum of congenital heart defects observed in children with Down's Syndrome.
- To highlight specific CHD patterns and potential protective factors in trisomy 21.
- To emphasize the need for integrated clinical and basic research.
Main Methods:
- Review of existing clinical observations and literature on CHD in Down's Syndrome.
- Analysis of epidemiological data regarding CHD prevalence in trisomy 21.
- Identification of research gaps concerning the etiology of these genetically determined heart defects.
Main Results:
- High prevalence of atrioventricular canal defects, ventricular septal defects, and tetralogy of Fallot in Down's Syndrome.
- Rarity of left-sided obstructive lesions and muscular ventricular septal defects noted.
- Potential protective associations against other specific cardiac anomalies observed.
Conclusions:
- Down's Syndrome is strongly associated with a distinct pattern of congenital heart defects.
- Understanding the underlying genetic and cellular mechanisms, such as cell adhesion and neural crest anomalies, is crucial.
- Interdisciplinary research collaboration is essential for advancing knowledge and improving outcomes for affected children.
Abstract:
The frequency of congenital heart disease in children with Down's Syndrome is high and ranges between 40 and 50% of cases. It was evident for many years that patients with trisomy 21 present certain congenital heart defects (atrioventricular canal, ventricular septal defect, tetralogy of Fallot) and seem to be "protected" from others (situs inversus and situs ambiguus, ventricular inversion, transposition of the great arteries). Recent observations also suggest that left-sided obstructive lesions and the muscular ventricular septal defect are very rare. The role of a suspected "increased adhesivanes of trisomy 21 cells" and of the anomalies of neutral crest needs to be investigated. The interaction between studies of clinicians and basic research will improve the knowledge of these genetically determined heart defects.