Abstract

MORAN-BARROSO, Verónica F. et al. Genetic aspects in the medical approach of congenital heart defects. Rev. med. Hosp. Gen. Méx. [online]. 2020, vol.83, n.2, pp.75-87.  Epub Sep 06, 2021. ISSN 2524-177X.  https://doi.org/10.24875/hgmx.19000023.

Congenital heart defects (CHDs) affect 6-11.1/1000 newborns; they are the most common type of birth defect and constitute a public health problem; they can be isolated or associated with other congenital malformations or to a syndromic disease. Their etiology has not been completely elucidated; most isolated cases are multifactorial with genetic and environmental factors involved. The CHDs that form part of a syndrome may be caused by chromosomal aberrations, monogenic alterations, and/or genomic disorders. Other factors in their etiology are epigenetic changes and stochastic effects. Their clinical approach is complex, and the diagnostic potentiality of the genetic analyses from the banding karyotype to the use of genomic medicine techniques should be considered by the multidisciplinary team taking care of these patients, to offer the best personalized treatment and management in a dignified manner, including the genetic assessment.

Keywords : Congenital heart defects; Genetics; Genomic medicine; Genomic disorders; Epigenetics.

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