Arrhythmias as Presentation of Genetic Cardiomyopathy.
Arrhythmias as Presentation of Genetic Cardiomyopathy.
复制标题
DOI：
10.1161/circresaha.122.319835
复制
发表时间：
2022-05-27
影响因子：
20.1
通讯作者：
Stevenson, Lynne W.
中科院分区：
文献类型：
--
作者：
Laws, J. Lukas;Lancaster, Megan C.;Ben Shoemaker, M.;Stevenson, William G.;Hung, Rebecca R.;Wells, Quinn;Brinkley, D. Marshall;Hughes, Sean;Anderson, Katherine;Roden, Dan;Stevenson, Lynne W.
有越来越多的证据表明遗传性心肌病的患病率，心律失常可能是第一个介绍。在没有已知心肌疾病的情况下出现的室性和房性心律失常通常被标记为“特发性”或“孤立性”。虽然室性心律失常被公认为右心室致心律失常性心肌病的表现，但致心律失常性心肌病的范围已扩大到包括主要累及左心室的患者，通常具有扩张型心肌病的表型。此外，对于频繁出现PVC、传导系统疾病和早发性房颤的患者，也需要仔细评估遗传性心肌病，其中大多数检测到的基因都在心肌病面板中。猝死可能发生在这些遗传性心肌病的早期，其风险不能通过左心室射血分数充分跟踪。在目前植入式心律转复除颤器的适应症中，只有少数与早期猝死有关的心肌病基因型被识别出来，否则扩张型心肌病患者的左心室射血分数≤ 0.35。遗传诊断影响了临床管理的其他方面，如心律失常的运动处方和药物治疗，新的治疗方法正在进入特定遗传性心肌病的临床研究。可用遗传信息和影响的扩展为遗传咨询提出了新的挑战，特别是对于没有心肌病表型证据并且可能面临遗传诊断潜在负面影响的家庭成员。先证者和亲属的风险讨论需要根据他们在共同决策过程中的数字素养进行调整。对于患有心律失常或心肌病的患者，基因检测的扩展及其影响将使级联筛查、干预能够改变特定基因型-表型特征的轨迹，并使新兴靶向治疗的进一步开发和评估成为可能。
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias presenting in the absence of known myocardial disease are often labelled as “idiopathic”, or “lone”. While ventricular arrhythmias are well-recognized as presentation for arrhythmogenic cardiomyopathy in the right ventricle, the scope of arrhythmogenic cardiomyopathy has broadened to include those with dominant left ventricular involvement, usually with a phenotype of dilated cardiomyopathy. In addition, careful evaluation for genetic cardiomyopathy is also warranted for patients presenting with frequent PVC’s, conduction system disease, and early onset atrial fibrillation, in which most detected genes are in the cardiomyopathy panels. Sudden death can occur early in the course of these genetic cardiomyopathies, for which risk is not adequately tracked by left ventricular ejection fraction. Only a few of the cardiomyopathy genotypes implicated in early sudden death are recognized in current indications for implantable cardioverter defibrillators which otherwise rely upon a left ventricular ejection fraction ≤ 0.35 in dilated cardiomyopathy. The genetic diagnoses impact other aspects of clinical management such as exercise prescription and pharmacologic therapy of arrhythmias, and new therapies are coming into clinical investigation for specific genetic cardiomyopathies. The expansion of available genetic information and implications raises new challenges for genetic counseling, particularly with the family member who has no evidence of a cardiomyopathy phenotype and may face a potentially negative impact of a genetic diagnosis. Discussions of risk for both probands and relatives need to be tailored to their numeric literacy during shared decision-making. For patients presenting with arrhythmias or cardiomyopathy, extension of genetic testing and its implications will enable cascade screening, intervention to change the trajectory for specific genotype-phenotype profiles, and enable further development and evaluation of emerging targeted therapies.