B. Marino, CONGENITAL HEART-DISEASE IN PATIENTS WITH DOWNS-SYNDROME - ANATOMIC AND GENETIC-ASPECTS, Biomedicine & pharmacotherapy, 47(5), 1993, pp. 197-200
Citations number
33
Categorie Soggetti
Pharmacology & Pharmacy","Medicine, Research & Experimental
The frequency of congenital heart disease in children with Down's Synd
rome is high and ranges between 40 and 50% of cases. It was evident fo
r many years that patients with trisomy 21 present certain congenital
heart defects (atrioventricular canal, ventricular septal defect, tetr
alogy of Fallot) and seem to be ''protected' from others (situs invers
us and situs ambiguus, ventricular inversion, transposition of the gre
at arteries). Recent observations also suggest that left-sided obstruc
tive 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 i
nteraction between studies of clinicians and basic research will impro
ve the knowledge of these genetically determined heart defects.