Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
Abstract
.Congenital heart defects (VCC) are the most common group of congenital structural defects, the presence of which is estimated on average at 8 - 1,000 live births, and are one of the main causes of newborn mortality and morbidity. At approximately 20% of the VCC, a clear association between the genes and the development of the disease is demonstrated, whether in the case of VCC in combination with other phenotypic features, i.e. chromosomal syndromes (e.g., microdeletions 22q11.2 etc.) or monogenic diseases, for which a number of causal genes have been identified (e.g., Marfan syndrome).
In other cases, the mechanism of formation is not fully known. Some of these cases may be associated with rare chromosome aberrations, many of which have not yet been revealed.
Celogenomic analysis using the CGH array allows detection of rare pathological submicroscopic aberrations that may be the cause of VCC, and eventual identification of new candidate genes. The risk of recurrence of VCC is between 1 and 3% depending on the type of defect.
However, the risk increases significantly if parents are translocated, translocated, duplicated or deleted. A better understanding of the mechanisms of origination and genetic causes of VCC will lead to improved diagnostics, preventive and therapeutic care, and to providing genetic counseling for parents in planning for further pregnancy.
We will present the results of the CGH array of patients with congenital heart defects. Interesting findings will be presented in case reports.