A carregar...
Publicação
Cardiopatia congénita na síndrome de Down : artigo de revisão
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 573.56 KB | Adobe PDF |
Orientador(es)
Resumo(s)
A Síndrome de Down é a patologia cromossómica mais frequente e está associada a vários fenótipos patológicos. Cerca de metade dos indivíduos afectados tem cardiopatia congénita, sendo esta patologia a principal causa de morte nos primeiros anos de vida. Adicionalmente, a malformação cardíaca contribui de forma importante para o aumento da morbilidade verificada nesta população. Na Síndrome de Down, a cardiopatia congénita mais frequente é o defeito do septo aurículo-ventricular, nomeadamente o de tipo completo, o qual ocorre em cerca de 25% dos casos. Outras patologias frequentes incluem: defeito do septo ventricular e auricular isolados, persistência do canal arterial e tetralogia de Fallot. Os indivíduos com Síndrome de Down sem cardiopatia congénita têm também maior incidência de patologia cardíaca adquirida e doenças em outros órgãos com manifestações a nível do coração. Pretendemos, nesta revisão da literatura, aprofundar o tema das cardiopatias congénitas mais frequentemente associadas à Síndrome de Down, de forma a que a sua leitura possa contribuir para alertar para o conhecimento das mesmas, incluindo a sua profilaxia, diagnóstico, tratamento e seguimento precoces e adequados, visto que o envolvimento cardíaco tem a maior importância prognóstica nesta população.
Down syndrome is the most frequent chromosomal pathology and is associated with many deleterious phenotypes. Congenital heart disease is present in about half of these patients and it is the main cause of death in the first years of life. Furthermore, cardiac malformations contribute importantly to morbidity in this population. The most frequent congenital heart disease in Down Syndrome is atrioventricular septal defect, mainly the complete type, observed in about 25% of individuals with Down Syndrome. Other frequent heart diseases include isolated ventricular septal defect, atrial septal defect, patent ductus arteriosus and tetralogy of Fallot. Also, individuals with Down Syndrome but without congenital heart malformations have a higher tendency of acquired cardiac disease and other systemic diseases with cardiac involvement. This revision of congenital heart diseases in Down Syndrome intends to alert to the problem and to the importance of an early and appropriate prophylaxis, diagnosis, treatment and follow-up of these pathologies which are responsible for the most significant morbidity and mortality in this population.
Down syndrome is the most frequent chromosomal pathology and is associated with many deleterious phenotypes. Congenital heart disease is present in about half of these patients and it is the main cause of death in the first years of life. Furthermore, cardiac malformations contribute importantly to morbidity in this population. The most frequent congenital heart disease in Down Syndrome is atrioventricular septal defect, mainly the complete type, observed in about 25% of individuals with Down Syndrome. Other frequent heart diseases include isolated ventricular septal defect, atrial septal defect, patent ductus arteriosus and tetralogy of Fallot. Also, individuals with Down Syndrome but without congenital heart malformations have a higher tendency of acquired cardiac disease and other systemic diseases with cardiac involvement. This revision of congenital heart diseases in Down Syndrome intends to alert to the problem and to the importance of an early and appropriate prophylaxis, diagnosis, treatment and follow-up of these pathologies which are responsible for the most significant morbidity and mortality in this population.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Síndrome de Down Cardiopatia congénita Defeito do septo aurículo-ventricular Persistência do canal arterial Tetralogia de Fallot