Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias

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• 作者：Katherine G. Spoonamore ; MS ; CGC^* ; Stephanie M. Ware ; MD ; PhD^&dagger ; ; ^{stware@iu.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：AD ; autosomal dominant ; AR ; autosomal recessive ; BrS ; Brugada syndrome ; CPVT ; catecholaminergic polymorphic ventricular tachycardia ; ECG ; electrocardiogram/electrocardiography/electrocardiographic ; FDR ; first-degree relative ; LQTS ; long QT syndrome ; NGS ; next generation sequencing ; QTc ; corrected QT ; SCA ; sudden cardiac arrest ; SCD ; sudden cardiac death ; SQTS ; short QT syndrome ; VUS ; variant of uncertain significance ; WES ; whole exome sequencing
• 刊名：Heart Rhythm
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：13
• 期：3
• 页码：789-797
• 全文大小：375 K

文摘

Sudden cardiac death due to heritable ventricular arrhythmias is an important cause of mortality, especially in young healthy individuals. The identification of the genetic basis of Mendelian diseases associated with arrhythmia has allowed the integration of this information into the diagnosis and clinical management of patients and at-risk family members. The rapid expansion of genetic testing options and the increasing complexity involved in the interpretation of results creates unique opportunities and challenges. There is a need for competency to incorporate genetics into clinical management and to provide appropriate family-based risk assessment and information. In addition, disease-specific genetic knowledge is required to order and correctly interpret and apply genetic testing results. Importantly, genetic diagnosis has a critical role in the risk stratification and clinical management of family members. This review summarizes the approach to genetic counseling and genetic testing for inherited arrhythmias and highlights specific genetic principles that apply to long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.