本指南描述了心肌病遗传评估所需的方法和专业知识。由美国心力衰竭协会（HFSA）于2009年首次出版，该指南现已与美国医学遗传学和基因组学学院(ACMG)合作更新.写作小组,由具有成人和儿童心肌病专业知识的心脏病专家和遗传学专业人员组成，反映了心血管遗传医学的出现和临床活动的增加。心肌病的遗传评估是一个迅速出现的关键临床优先事项，因为高通量测序现在对于临床试验是可行的，而常规干预措施可以提高生存率，降低发病率，提高生活质量。此外，具体的干预措施可能会受到遗传分析的指导。建议采用系统的方法：始终具有全面的家族史；对先证者和有风险的家庭成员进行专家表型评估，以确认诊断并指导基因测试的选择和解释；根据需要转介给专家中心；基因检测，测试前和测试后的遗传咨询；以及药物和设备治疗的具体指导。婴儿和儿童的评估需要特殊的专业知识。提供了ACMG建议的管理次要和附带序列发现的方法。
This
guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the
guideline has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine. The genetic evaluation of cardiomyopathy is a rapidly emerging key clinical priority, because high-throughput sequencing is now feasible for clinical testing and conventional interventions can improve survival, reduce morbidity, and enhance quality of life. Moreover, specific interventions may be guided by genetic analysis. A systematic approach is recommended: always a comprehensive family history; an expert phenotypic evaluation of the proband and at-risk family members to confirm a diagnosis and guide genetic test selection and interpretation; referral to expert centers as needed; genetic testing, with pre- and post-test genetic counseling; and specific guidance as indicated for drug and device therapies. The evaluation of infants and children demands special expertise. The approach to managing secondary and incidental sequence findings as recommended by the ACMG is provided.
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