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Published on: July 5, 2021
Genetic Abnormalities of the Sinoatrial Node and Atrioventricular Conduction
Andreu Porta-Sánchez1, Silvia Giuliana Priori2
1Cardiología 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.
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.
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