Article

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down Syndrome

Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, Maryland, United States
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 11/2006; 140(22):2501-5. DOI: 10.1002/ajmg.a.31494
Source: PubMed
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    ABSTRACT: Cardiac affection is a common issue in the Down syndrome (DS) population, in the form of both congenital and acquired heart disorders. There are different types of congenital heart disease (CHD) in children with Down syndrome (DS). Echocardiography plays an important role in the detection of both structural and functional abnormalities in this group of patients. Fetal echocardiography can help in the early recognition of Down syndrome by detecting soft markers of DS, but its main role is to define the exact nature of the suspected cardiac problem in the fetus. Postnatal echocardiography is mandatory in the first month of life for all neonates with DS. It is also indicated before any cardiac surgery and for serial follow-up after cardiac surgery. In this Lecture, we discuss the types and mechanism of cardiac abnormalities in DS children and the role of both fetal and postnatal echocardiography in the detection of these abnormalities.
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