New report explores genetics of congenital heart disease

Genetics are at the core of some congenital heart defects, 一项新的科学声明可以帮助指导医生掌握新的信息和测试技术，这不仅可以帮助患者，也可以帮助他们的家人.

The report from the American Heart Association published Thursday in Circulation(link opens in new window) 提供遗传学和先天性心脏病领域最新进展, 这个术语用来描述出生前心脏没有正常发育而出现的缺陷或异常.

“In the last 10 years, 有许多重要的新的科学方法来研究和鉴定导致先天性心脏病的基因. 这种新的认识改变了我们对如何照顾先天性心脏病患者的整个看法,” said the statement’s lead author, Dr. Mary Ella Pierpont, 他是明尼苏达大学的儿科医生和儿科遗传学和代谢学教授.

摘要涵盖了广泛的主题和遗传条件的新进展, including a phenomenon called copy number variation, or CNV, 当一个特定基因的拷贝数在人与人之间发生变化时. 该声明还提供了关于新的分子检测技术及其如何应用于先天性心脏病和其他先天性异常或综合征的最新信息.

“If doctors know the cause of their patients’ conditions, they can make a better long-term medical management plan, provide better care and the promise of a healthier life,” Pierpont said. “For example, 某些类型的先天性心脏病可能与心律失常有关, 了解基因异常可以帮助医生评估心律失常的可能性.”

新的基因检测技术有助于确定先天性心脏病的预后, assess risks for the patient’s children and other close relatives, and alert doctors to associated medical conditions that may need attention.

The statement helps doctors “think about things in the context of a family, not just the individual in front of you,” said Dr. Carolyn Ho, 布里格姆妇女医院心血管遗传中心的医学主任, and an associate professor at Harvard Medical School.

Ho, who was not involved in writing the report, 他说:“导致先天性心脏病的基因异常类型非常多样, 这个陈述很好地说明了你可以进行哪些类型的基因检测, 基于广泛的基因变化以及它如何导致先天性心脏病.”

该声明讨论了近年来出现的新的产前基因检测技术，以更好地告知医生和父母，他们可能担心患有先天性心脏病的妇女及其婴儿的风险增加.

“The statement is not dogmatic, 说你必须或应该接受测试——但你确实需要接受教育，这样你才能为自己和家人做出正确的决定,” said Dr. Wendy K. Chung, 声明的合著者、临床和分子遗传学家、哥伦比亚大学儿科学教授. “声明说，父母去看在产前环境中有经验的专业人士是很重要的, such as a genetic counselor and/or geneticist.”

Newer prenatal tests include non-invasive cell-free DNA testing, which is conducted by blood sample from the mother, and chromosomal microarray, or CMA, testing. 测试是在羊膜穿刺术后进行的，这一过程有很小的流产风险. The statement says CMA tests are warranted, either prenatally or postnatally, for people with certain types of congenital heart disease.

“无细胞DNA测试可以检测出一些与先天性心脏病有关的东西, but the chromosome microarray test gives you more information,” said Chung. “Looking forward, 我们目前在产前研究中使用了更强大的技术. There’s a lot coming down the pike very quickly.”

Pierpont agreed, 但她对先天性心脏缺陷的关键研究可能得不到资助表示担忧, 包括非心脏疾病与先天性心脏病之间的关系.

“成人心脏病和胆固醇在心脏病方面获得了大部分资金, but we also need improved research for congenital heart disease,” she said. “This paper shows there’s a lot happening. It’s a very important area for future research.”

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