Cardiovascular Division, Clinical Research Building, Miller School of Medicine, University of Miami, Miami, FL 33101, USA.
J Cardiovasc Transl Res. 2008 Jun;1(2):137-43. doi: 10.1007/s12265-008-9031-3. Epub 2008 May 20.
Cardiovascular genetic medicine is devoted to the identification and understanding of cardiac conditions resulting from genetic and genomic mechanisms and to the development and validation of diagnostic and treatment algorithms and guidelines. Cardiovascular genetic medicine clinics now provide expert cardiovascular subspecialty care, genetic counseling and clinical genetic testing, and will eventually provide disease-specific gene or genetic therapies. Currently, the most tractable diagnoses for cardiovascular genetic medicine are the single-gene disorders: the cardiomyopathies, the channelopathies, and others. The recent explosion of genetic knowledge within the single-gene disorders and consequent rapid proliferation of genetic testing enables far greater numbers of individuals to directly benefit from this progress. A compelling rationale exists for this approach: cardiovascular single-gene diseases commonly present with life-threatening events (e.g., sudden cardiac death, heart failure, stroke, etc.), but identification, evaluation, and treatment of individuals with presymptomatic genetic risk has the promise to prevent or ameliorate cardiovascular morbidity and mortality. Cardiovascular genetic medicine programs also anchor training and research, thereby enabling the next generation of academic specialists in cardiovascular genetic medicine to continue to improve cardiovascular health.
心血管遗传医学致力于识别和理解由遗传和基因组机制引起的心脏疾病，并开发和验证诊断和治疗算法和指南。心血管遗传医学诊所现在提供专业的心血管亚专科医疗服务、遗传咨询和临床基因检测，并最终将提供针对特定疾病的基因或遗传治疗。目前，心血管遗传医学最易于诊断的是单基因疾病：心肌病、通道病等。单基因疾病中的遗传知识最近呈爆炸式增长，基因检测也迅速普及，使得更多的人可以直接从中受益。这种方法有一个令人信服的理由：心血管单基因疾病通常会出现危及生命的事件（例如，心源性猝死、心力衰竭、中风等），但是识别、评估和治疗有遗传风险的无症状个体有望预防或改善心血管发病率和死亡率。心血管遗传医学计划还为培训和研究提供了基础，从而使心血管遗传医学领域的下一代学术专家能够继续改善心血管健康。
