窦房结和房室传导的遗传异常。

Genetic Abnormalities of the Sinoatrial Node and Atrioventricular Conduction.

机构信息

Cardiología Molecular, Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC) Madrid, Spain; Departamento de Cardiología, Unidad de Arritmias, Hospital Universitario Quironsalud Madrid, Spain; Departamento de Medicina, Universidad Europea de Madrid, Spain.

Cardiología Molecular, Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC) Madrid, Spain; Molecular Medicine Department, University of Pavia, Italy; Istituti Clinici Scientifici Maugeri, IRCCS, Pavia, Italy.

出版信息

Cardiol Clin. 2023 Aug;41(3):333-347. doi: 10.1016/j.ccl.2023.03.014.

DOI:10.1016/j.ccl.2023.03.014

PMID:37321685

Abstract

The peculiar electrophysiological properties of the sinoatrial node and the cardiac conduction system are key components of the normal physiology of cardiac impulse generation and propagation. Multiple genes and transcription factors and metabolic proteins are involved in their development and regulation. In this review, we have summarized the genetic underlying causes, key clinical findings, and the latest available clinical evidence. We will discuss clinical diagnosis and management of the genetic conditions associated with conduction disorders that are more prevalent in clinical practice, for this reason, very rare genetic diseases presenting sinus node or cardiac conduction system abnormalities are not discussed.

摘要

窦房结和心脏传导系统的特殊电生理特性是心脏冲动产生和传播正常生理功能的关键组成部分。多个基因和转录因子以及代谢蛋白参与了它们的发育和调节。在这篇综述中，我们总结了遗传的潜在原因、关键的临床发现以及最新的临床证据。我们将讨论与传导障碍相关的遗传疾病的临床诊断和治疗，这些疾病在临床实践中更为常见，因此，非常罕见的以窦房结或心脏传导系统异常为表现的遗传疾病不在讨论之列。