Department of Medicine, Division of Cardiology, Toronto General Hospital, Toronto, ON, Canada.
Curr Cardiol Rep. 2011 Aug;13(4):347-55. doi: 10.1007/s11886-011-0188-z.
New discoveries using high-resolution methods for detecting genetic aberrations indicate that the genetic contribution to congenital heart disease has been significantly underestimated in the past. DNA diagnostics have become more accessible and genetic test results are increasingly being used to guide clinical management. Adult congenital heart disease specialists seeking to counsel adults with congenital heart disease about the genetic aspects of their condition face the challenge of keeping abreast of new genetic techniques and discoveries. The emphasis of this review is on the genetic basis of structural cardiovascular defects. A framework for identifying adult congenital heart disease patients most likely to benefit from genetic testing is suggested, along with a summary of current techniques for genetic testing. The clinical and ethical challenges associated with genetic counseling are highlighted. Finally, emerging technologies and future directions in genetics and adult congenital heart disease are discussed.
使用高分辨率方法检测遗传异常的新发现表明，过去对先天性心脏病的遗传贡献严重低估了。DNA 诊断变得更加容易获得，遗传测试结果越来越多地被用于指导临床管理。寻求为患有先天性心脏病的成年人提供咨询的成人先天性心脏病专家面临着跟上新的遗传技术和发现的挑战。这篇综述的重点是结构性心血管缺陷的遗传基础。提出了一种识别最有可能从基因检测中受益的成人先天性心脏病患者的框架，并总结了当前的基因检测技术。强调了遗传咨询相关的临床和伦理挑战。最后，讨论了遗传学和成人先天性心脏病的新兴技术和未来方向。
