Genetic Perspective of the Congenital Heart Disease (original) (raw)
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Genetic aspects in the medical approach of congenital heart defects
Revista M�dica del Hospital General de M�xico
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.
Congenital Heart Disease: causes and risk factors
Pakistan BioMedical Journal, 2021
Congenital Heart Defect (CHD) is a multifactorial disorder based on both genetic and environmental factors involved in development. The basic problem lies in the structure of heart leading to CHD that occurs in walls, valves, arteries and veins of heart. During cell cycle, the gene that controls this process may mutate, causing disturbance in any portion of heart leading to disturbed blood flow, blood flow in wrong direction or complete blockage. Defect may range from simple with no manifestations to complex with severe symptoms. Simple defects need no treatment while some babies with complex birth defects during birth require special care, vaccination, medication or otherwise treated with surgery. The incidence of CHD has declined from 80 to 20% due to progress in heart surgery techniques, medical treatment and interventional cardiology. Various genetic and non-genetic increase the susceptibility for CHD. The diagnosis and treatment of CHD has greatly improved in recent years. Almo...
2010
The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease. (Circulation. 2007;115:3015-3038.)
Congenital heart defects : a familial, genetic and environmental perspective : artigo de revisão
2016
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.
2007
The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with...