Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association
Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association
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DOI：
10.1161/hcg.0000000000000054
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发表时间：
2019-06-01
影响因子：
7.4
通讯作者：
Wilcox, Janel E.
中科院分区：
文献类型：
--
作者：
Ahmad, Ferhaan;McNally, Elizabeth M.;Wilcox, Janel E.
心血管遗传学是心血管医学中一个快速发展的子专业，其发展归功于基因组测序和基因检测的进步，以及对多种心脏疾病遗传基础的不断深入了解，包括心律失常（通道病），心力衰竭（心肌病），脂质紊乱，神经肌肉疾病的心脏并发症和血管疾病，包括血管病。在临床诊断方法以及改善症状、减缓疾病进展和减轻不良后果风险的疗法方面也取得了巨大进展。新出现的挑战包括遗传检测结果的解释，以及对具有遗传致病性变异但尚未表现出疾病的遗传风险家庭成员的评估、咨询和管理。随着这些进步和挑战，需要将心血管医学和遗传学专业知识相结合的专业课程。将临床心血管发现（包括从体格检查、成像和功能评估中获得的结果）与遗传信息相结合，可以改善诊断、诊断和级联家族检测，以识别和管理风险，并在某些情况下提供基因型特异性治疗。这种新兴的亚专科可能最终需要一个新的心血管亚专科，遗传心脏病学家，配备这些综合技能，允许解释遗传变异的表型范围内，并扩大基因检测的效用。本科学声明概述了目前在儿科和成人环境中提供心血管遗传评估和护理的最佳实践，重点是团队成员的专业知识和最受益于遗传评估的条件。
Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine, and its growth is attributed to advances in genome sequencing and genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions, including arrhythmias (channelopathies), heart failure (cardiomyopathies), lipid disorders, cardiac complications of neuromuscular conditions, and vascular disease, including aortopathies. There have also been great advances in clinical diagnostic methods, as well as in therapies to ameliorate symptoms, slow progression of disease, and mitigate the risk of adverse outcomes. Emerging challenges include interpretation of genetic test results and the evaluation, counseling, and management of genetically at-risk family members who have inherited pathogenic variants but do not yet manifest disease. With these advances and challenges, there is a need for specialized programs combining both cardiovascular medicine and genetics expertise. The integration of clinical cardiovascular findings, including those obtained from physical examination, imaging, and functional assessment, with genetic information allows for improved diagnosis, prognostication, and cascade family testing to identify and to manage risk, and in some cases to provide genotype-specific therapy. This emerging subspecialty may ultimately require a new cardiovascular subspecialist, the genetic cardiologist, equipped with these combined skills, to permit interpretation of genetic variation within the context of phenotype and to extend the utility of genetic testing. This scientific statement outlines current best practices for delivering cardiovascular genetic evaluation and care in both the pediatric and the adult settings, with a focus on team member expertise and conditions that most benefit from genetic evaluation.