| Journal: | Revista médica del Hospital General de México |
| Database: | PERIÓDICA |
| System number: | 000439527 |
| ISSN: | 0185-1063 |
| Authors: | Morán Barroso, Verónica F1 Cervantes, Alicia1 García Cavazos, Ricardo J2 Queipo, Gloria1 Briones Garduño, Jesús C3 Coronel Cruz, Fausto4 Durán Ruiz, R. Eréndira5 Firó Reyes, Verónica6 López Noria, Omar F7 Ochoa Pérez, Víctor8 Ortega Cruz, Manuel5 Varela Luna, Joaquín7 |
| Institutions: | 1Hospital General de México, Servicio de Genética, Ciudad de México. México 2Hospital General de México, Dirección de Educación y Capacitación en Salud, Ciudad de México. México 3Hospital General de México, Servicio de Ginecología y Obstetricia, Ciudad de México. México 4Hospital General de México, Servicio de Medicina Materno-Fetal, Ciudad de México. México 5Hospital General de México, Servicio de Neonatología, Ciudad de México. México 6Hospital General de México, Servicio de Pediatría, Ciudad de México. México 7Hospital General de México, Servicio de Cardiología Pediátrica, Ciudad de México. México 8Hospital General de México, Servicio de Cardiología, Ciudad de México. México |
| Year: | 2020 |
| Season: | Ene-Mar |
| Volumen: | 83 |
| Number: | 2 |
| Pages: | 75-87 |
| Country: | México |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Analítico, descriptivo |
| English 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 |
| Disciplines: | Medicina |
| Keyword: | Genética, Sistema cardiovascular, Defectos cardiacos congénitos, Medicina genómica, Trastornos genómicos, Epigenética |
| Keyword: | Genetics, Cardiovascular system, Congenital heart defects, Genomic medicine, Genomic disorders, Epigenetics |
| Full text: | https://www.hospitalgeneral.mx/frame_esp.php?id=55 |
