Chromosomal aberrations and congenital heart diseases.
The incidence of chromosomal aberration with CHD is 10.5% in the autopsy cases. 2. The characteristic major cardiac malformations associated with chromosomal aberration are conal abnormality, abnormal septation and cardiac valve abnormalities. 3. The characteristic association of chromosomal aberration and CHD is CAVO in Down syndrome, triple shunts and multivalvular disease in 18 trisomy, shunts in delition syndrome and coarctation of the aorta in Turner syndrome. 4. Minor cardiac anomalies associated with chromosomal aberration are valve dysplasia such as bicuspid semilunar cusps, parachute A-V valve, thickning, deformity and insufficient differentiation of valve and of chordae tendinae and hypoplastic or immature papillary muscles. 5. Primary target in cardiovascular involvement by chromosomal aberration might be a cement property of the connective tissue which is expected to conseal the foramens and shunts and to develop valve structures in embryonic heart.
D002815:Chordae Tendineae / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000150:complications*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D004314:Down Syndrome / Q000150:complications; D006330:Heart Defects, Congenital / Q000235:genetics*; D006343:Heart Septal Defects / Q000235:genetics; D006351:Heart Valves / Q000002:abnormalities; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications; D010210:Papillary Muscles / Q000002:abnormalities; D014314:Trisomy