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Congenital heart defects : a familial, genetic and environmental perspective : artigo de revisão
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Resumo(s)
As cardiopatias congénitas (CC) são o defeito mais comum à nascença, afetando aproximadamente 1% de todos os nados-vivos. A população de adultos com CC ultrapassou a prevalência da população pediátrica, devido aos avanços notáveis dos cuidados médicos nos últimos anos, não só ao nível diagnóstico como também terapêutico. A etiologia das CC’s segue um modelo multifactorial, no qual uma complexidade de genes e fatores não genéticos interagem entre si. Contudo, ainda pouco é conhecido sobre os mecanismos genéticos, epigenéticos e ambientais precisos para estas doenças, apesar dos avanços recentes no conhecimento genético associado às CC’s.
Esta revisão tem como objectivo explorar a etiologia das CC’s, nomeadamente genética, incluindo defeitos cardíacos sindrómicos e não-sindrómicos, risco familiar e factores ambientais descobertos até à data actual. Esta informação é vital para oferecer melhores cuidados de saúde e planeamento familiar aos pacientes e suas famílias. Por esse motivo, temas como o aconselhamento parental, testes de rastreio genético e ecocardiográfico, bem como pré-natal, vão ser abordados. Será também apresentado um breve resumo das CC’s mais referidas nos estudos etiológicos, incluindo epidemiologia, patologia e fenótipo.
Congenital heart disease (CHD) is the most common birth defect, affecting approximately 1% of all live births. The population of adults with CHD has surpassed the prevalence of pediatric CHD due to remarkable achievements in medical care in the last few years, not only diagnostic but therapeutic as well. The etiology of CHD follows a multifactorial model, in which a complexity of genes and non-genetic factors interact. However, the precise genetic, epigenetic and environmental mechanisms for these perturbations remains poorly understood, despite the recent advances in genetic knowledge associated to CHD. This review has the aim to explore the etiology of CHD, namely genetics, including syndromic and nonsyndromic cardiac defects, familiar risk and environmental factors discovered to date. This information is vital to offer a better health management and family planning to the patients and their families. Therefore, parental counselling, echocardiographic and genetic testing, as well as, prenatal screening will also be addressed. A brief review of the CHDs most reported in etiological studies, including epidemiology, pathology and phenotype, will be approached as well.
Congenital heart disease (CHD) is the most common birth defect, affecting approximately 1% of all live births. The population of adults with CHD has surpassed the prevalence of pediatric CHD due to remarkable achievements in medical care in the last few years, not only diagnostic but therapeutic as well. The etiology of CHD follows a multifactorial model, in which a complexity of genes and non-genetic factors interact. However, the precise genetic, epigenetic and environmental mechanisms for these perturbations remains poorly understood, despite the recent advances in genetic knowledge associated to CHD. This review has the aim to explore the etiology of CHD, namely genetics, including syndromic and nonsyndromic cardiac defects, familiar risk and environmental factors discovered to date. This information is vital to offer a better health management and family planning to the patients and their families. Therefore, parental counselling, echocardiographic and genetic testing, as well as, prenatal screening will also be addressed. A brief review of the CHDs most reported in etiological studies, including epidemiology, pathology and phenotype, will be approached as well.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Cardiopatias congénitas Risco familiar Aconselhamento genético Testes de rastreio pré-natal Testes genéticos Sindrómico