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首页> 外文期刊>Cardiology in review >Emerging Implications of Genetic Testing in Inherited Primary Arrhythmia Syndromes
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Emerging Implications of Genetic Testing in Inherited Primary Arrhythmia Syndromes

机译：基因检测在遗传初发性心律失常综合征中的新兴含义

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Inherited primary arrhythmia syndromes are genetically determined disorders of cardiac ion channels or ion channel macromolecular complexes usually associated with a higher risk of sudden cardiac death. These conditions have a very broad spectrum of clinical manifestations, ranging from an asymptomatic course to syncope, atrial and ventricular arrhythmias, and conduction disturbances, but may produce sudden infant death syndrome and unexplained sudden cardiac death in apparently healthy individuals. During the last 20 years, the evolving knowledge on the genetic basis of inherited arrhythmia syndromes has dramatically reshaped our understanding of these conditions and, consequently, had a great impact on patient care. Based on the knowledge of the genetic substrates, specific risk factors for individual genotypes have been identified, and various investigations have been launched with the intention of developing a gene- and even mutation-specific therapy. Preliminary results from animal studies suggest that gene therapy rescues the normal ion channel function and thereby prevents cardiac events in some primary arrhythmia syndromes, which suggests that upon appropriate validation in a clinical setting, it may become available for affected patients. The purpose of this review is to provide clinicians with a contemporary insight into the role of genetic testing in the diagnosis, therapy, and prognosis of patients with primary arrhythmia syndromes, and the clinical implications of screening family members who are at risk of sudden cardiac death.
机译：遗传初级心律失常综合征是遗传确定的心脏离子通道或离子通道大分子复合物的紊乱，通常与突然心脏死亡的风险较高相关。这些条件具有非常广泛的临床表现谱，从无症状过程中的晕厥，心房和心律失常，以及传导紊乱，但可能会产生突然的婴儿死亡综合征，并且在显然健康的个体中无法解释的突然心脏死亡。在过去的20年中，对遗传心律失常综合征的遗传基础的不断发展的知识显着地重塑了我们对这些条件的理解，因此对患者护理产生了很大影响。基于遗传底物的知识，已经确定了个体基因型的特异性危险因素，并推出了各种调查，目的是开发基因甚至突变特异性治疗。动物研究的初步结果表明，基因治疗抵押常规离子通道功能，从而防止某些原发性心律失常综合征中的心脏事件，这表明在临床环境中适当的验证，它可能适用于受影响的患者。本综述的目的是提供临床医生，其具有当代洞察遗传检测在初级心律失常综合征患者诊断，治疗和预后的作用，以及筛查患有突然心脏死亡风险的家庭成员的临床意义。

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