基因检测是治疗某些心脏病的家庭的工具

调查一些心血管疾病的遗传根源可以帮助患者和他们的医生做出决定, identify risks and manage treatment, according to a new report.

这份来自美国心脏协会的科学声明总结了关于影响心脏病的基因的已知情况，以及需要进一步研究的内容, 以及基因检测如何影响这些疾病的治疗. The report was published Thursday in the journal Circulation: Genomic and Precision Medicine.

"With most genetic cardiovascular diseases, 从父母那里继承突变(或变体)大大增加了患病的风险，但并不能保证患病," Dr. 声明撰写小组主席基兰·穆苏努鲁(Kiran Musunuru)在线上电子游戏飞禽走兽发布会上说.

"In some cases, it might be possible to act early and prevent the disease," said Musunuru, 他是费城宾夕法尼亚大学佩雷尔曼医学院心血管医学和遗传学教授. "In other cases, 由基因引起的心血管疾病的突变可能会导致不同的、可能更积极的治疗."

可能有遗传基因成分的心血管疾病, according to the statement, include:

– cardiomyopathies, heart muscle diseases that can lead to heart failure

– thoracic aortic aneurysms and dissections这可能导致身体的大动脉膨胀和破裂

– arrhythmias, abnormal heart rhythms that can be deadly

– familial hypercholesterolemia例如，极高的低密度脂蛋白胆固醇水平会大大增加心脏病发作的风险

“尽管基因检测在过去几年里出现了爆炸式的增长, both in the clinical setting and with direct-to-consumer testing, 心脏病的基因检测应该保留给特定的病人," Musunuru said.

Before considering testing, 声明称，医疗保健提供者和患者应该记录家庭病史, ideally going back three generations, 以确定是否存在某种类型心脏病的模式. Then, 筛查应保留给被诊断患有遗传性心血管疾病或怀疑患有这种疾病的人, 或者对于那些家庭成员中有基因变异的人.

Because immediate family members such as parents, 兄弟姐妹或子女可能有相同的基因变异，使他们易患遗传性心脏病, they are considered at higher risk for the conditions. So, once a genetic variant is identified, immediate family should consider testing and counseling, the statement said.

尽管人类遗传学的进步提高了对遗传性心血管疾病的理解, the statement cautioned there are still a lot of unknowns. In many cases, genetic tests can be inconclusive. 或者被诊断患有遗传性心血管疾病的人可能没有任何基因变异的检测结果呈阳性.

“另一个问题是，我们还没有弄清导致各种遗传性心血管疾病的全部基因. 我们仍然处于探索模式，正在进行研究工作，”Musunuru说. "Genetic testing methods are evolving, 在基因检测中确定变异的可靠分类将仍然是临床遗传学实践的一个突出挑战."

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