Genetic aspects in the medical approach of congenital heart defects
Abstract 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.
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Sociedad Médica del Hospital General de México A.C.
2020
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oai:scielo:S2524-177X20200002000752021-09-01Genetic aspects in the medical approach of congenital heart defectsMorán-Barroso,Verónica F.Cervantes,AliciaGarcía-Cavazos,Ricardo J.Queipo,GloriaBriones-Garduño,Jesús C.Coronel-Cruz,FaustoDurán-Ruíz,R. EréndiraFiró-Reyes,VerónicaLópez-Noria,Omar F.Ochoa-Pérez,VíctorOrtega-Cruz,ManuelVarela-Luna,Joaquín Congenital heart defects Genetics Genomic medicine Genomic disorders Epigenetics Abstract 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.info:eu-repo/semantics/openAccessSociedad Médica del Hospital General de México A.C.Revista médica del Hospital General de México v.83 n.2 20202020-06-01info:eu-repo/semantics/articletext/htmlhttp://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S2524-177X2020000200075en10.24875/hgmx.19000023 |
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Morán-Barroso,Verónica F. Cervantes,Alicia García-Cavazos,Ricardo J. Queipo,Gloria Briones-Garduño,Jesús C. Coronel-Cruz,Fausto Durán-Ruíz,R. Eréndira Firó-Reyes,Verónica López-Noria,Omar F. Ochoa-Pérez,Víctor Ortega-Cruz,Manuel Varela-Luna,Joaquín |
spellingShingle |
Morán-Barroso,Verónica F. Cervantes,Alicia García-Cavazos,Ricardo J. Queipo,Gloria Briones-Garduño,Jesús C. Coronel-Cruz,Fausto Durán-Ruíz,R. Eréndira Firó-Reyes,Verónica López-Noria,Omar F. Ochoa-Pérez,Víctor Ortega-Cruz,Manuel Varela-Luna,Joaquín Genetic aspects in the medical approach of congenital heart defects |
author_facet |
Morán-Barroso,Verónica F. Cervantes,Alicia García-Cavazos,Ricardo J. Queipo,Gloria Briones-Garduño,Jesús C. Coronel-Cruz,Fausto Durán-Ruíz,R. Eréndira Firó-Reyes,Verónica López-Noria,Omar F. Ochoa-Pérez,Víctor Ortega-Cruz,Manuel Varela-Luna,Joaquín |
author_sort |
Morán-Barroso,Verónica F. |
title |
Genetic aspects in the medical approach of congenital heart defects |
title_short |
Genetic aspects in the medical approach of congenital heart defects |
title_full |
Genetic aspects in the medical approach of congenital heart defects |
title_fullStr |
Genetic aspects in the medical approach of congenital heart defects |
title_full_unstemmed |
Genetic aspects in the medical approach of congenital heart defects |
title_sort |
genetic aspects in the medical approach of congenital heart defects |
description |
Abstract 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. |
publisher |
Sociedad Médica del Hospital General de México A.C. |
publishDate |
2020 |
url |
http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S2524-177X2020000200075 |
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