Pierpont Mary Ella, Basson Craig T, Benson D Woodrow, Gelb Bruce D, Giglia Therese M, Goldmuntz Elizabeth, McGee Glenn, Sable Craig A, Srivastava Deepak, Webb Catherine L
Children's Hospital of Minnesota and University of Minnesota, USA.
Circulation. 2007 Jun 12;115(23):3015-38. doi: 10.1161/CIRCULATIONAHA.106.183056. Epub 2007 May 22.
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.
本综述的目的是向临床医生总结目前已知的遗传学对先天性心脏病起源的贡献。文中讨论了评估患有心脏病儿童的基因改变的技术。其中许多技术目前已可用于临床。本文介绍了有关心脏病患儿基因和临床评估的信息,并构建了几个表格以帮助临床医生评估不同类型心脏病的患儿。心脏缺陷的遗传算法已构建完成,并在附录中提供。预计本综述将使包括儿科心脏病专家和儿科医生、成人心脏病专家、内科医生、产科医生、护士和胸外科医生在内的广泛医疗人员了解先天性心脏病的遗传方面,并鼓励对患有先天性心脏病的儿童和成人采取跨学科方法。