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Emerging Implications of Genetic Testing in Inherited Primary Arrhythmia Syndromes.
Cardiology in Review ( IF 2.0 ) Pub Date : 2018-3-13 , DOI: 10.1097/crd.0000000000000203
Babken Asatryan 1 , Argelia Medeiros-Domingo
Affiliation  

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.

中文翻译:

基因检测在遗传性原发性心律不齐综合征中的新兴含义。

遗传性原发性心律失常综合症是由基因确定的心脏离子通道或离子通道大分子复合物紊乱,通常与心脏猝死的较高风险相关。这些疾病的临床表现范围很广,从无症状病程到晕厥,房性和室性心律不齐以及传导障碍,但在看起来健康的个体中可能会导致婴儿猝死综合征和无法解释的心脏猝死。在过去的20年中,遗传性心律失常综合症的遗传基础上不断发展的知识极大地重塑了我们对这些疾病的理解,因此对患者的护理产生了巨大影响。根据对遗传底物的了解,已经确定了各个基因型的特定危险因素,并且已经开展了各种研究,旨在开发一种基因甚至突变特异性疗法。动物研究的初步结果表明,基因治疗可挽救正常的离子通道功能,从而预防某些原发性心律不齐综合征中的心脏事件,这表明在临床上进行适当验证后,可能会对受影响的患者可用。这篇综述的目的是向临床医生提供有关遗传检测在原发性心律不齐综合征患者的诊断,治疗和预后中的作用以及筛查有心脏猝死风险的家庭成员的临床意义的当代见解。 。动物研究的初步结果表明,基因治疗可挽救正常的离子通道功能,从而预防某些原发性心律不齐综合征中的心脏事件,这表明在临床环境中进行适当验证后,可能对患病的患者可用。这篇综述的目的是向临床医生提供有关遗传检测在原发性心律不齐综合征患者的诊断,治疗和预后中的作用以及筛查有心脏猝死风险的家庭成员的临床意义的当代见解。 。动物研究的初步结果表明,基因治疗可挽救正常的离子通道功能,从而预防某些原发性心律不齐综合征中的心脏事件,这表明在临床上进行适当验证后,可能会对受影响的患者可用。这篇综述的目的是向临床医生提供有关遗传检测在原发性心律不齐综合征患者的诊断,治疗和预后中的作用以及筛查有心脏猝死风险的家庭成员的临床意义的当代见解。 。它可能对受影响的患者可用。这篇综述的目的是向临床医生提供有关遗传检测在原发性心律不齐综合征患者的诊断,治疗和预后中的作用以及筛查有心脏猝死风险的家庭成员的临床意义的当代见解。 。它可能对受影响的患者可用。这篇综述的目的是向临床医生提供有关遗传检测在原发性心律不齐综合征患者的诊断,治疗和预后中的作用以及筛查有心脏猝死风险的家庭成员的临床意义的当代见解。 。
更新日期:2020-12-17
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