The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction

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• 作者：Raffaella Milanesi ; Annalisa Bucchi…
• 关键词：SAN ; AVN ; Sick sinus syndrome ; Atrioventricular block ; SAN dysfunction ; AVN dysfunction
• 刊名：Journal of Interventional Cardiac Electrophysiology
• 出版年：2015
• 出版时间：August 2015
• 年：2015
• 卷：43
• 期：2
• 页码：121-134
• 全文大小：3,373 KB
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• 作者单位：Raffaella Milanesi (1) (2)
  Annalisa Bucchi (1) (2)
  Mirko Baruscotti (1) (2)
  
  1. Department of Biosciences, University of Milano, via Celoria 26, 20133, Milan, Italy
  2. Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata, University of Milano, Milan, Italy
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Cardiology
  
• 出版者：Springer Netherlands
• ISSN：1572-8595

文摘

The sinoatrial node (SAN) and the atrioventricular node (AVN) are the anatomical and functional regions of the heart which play critical roles in the generation and conduction of the electrical impulse. Their functions are ensured by peculiar structural cytological properties and specific collections of ion channels. Impairment of SAN and AVN activity is generally acquired,but in some cases familial inheritance has been established and therefore a genetic cause is involved. In recent years, combined efforts of clinical practice and experimental basic science studies have identified and characterized several causative gene mutations associated with the nodal syndromes. Channelopathies, i.e., diseases associated with defective ion channels, remain the major cause of genetically determined nodal arrhythmias; however, it is becoming increasingly evident that mutations in other classes of regulatory and structural proteins also have profound pathophysiological roles. In this review, we will present some aspects of the genetic identification of the molecular mechanism underlying both SAN and AVN dysfunctions with a particular focus on mutations of the Na, pacemaker (HCN), and Ca channels. Genetic defects in regulatory proteins and calcium-handling proteins will be also considered. In conclusion, the identification of the genetic defects associated with familial nodal dysfunction is an essential step for implementing an appropriate therapeutic treatment.