Pathogenesis and Clinical Characteristics of Hereditary Arrhythmia Diseases

Genes (Basel). 2024 Oct 24;15(11):1368. doi: 10.3390/genes15111368.

Abstract

Hereditary arrhythmias, as a class of cardiac electrophysiologic abnormalities caused mainly by genetic mutations, have gradually become one of the most important causes of sudden cardiac death in recent years. With the continuous development of genetics and molecular biology techniques, the study of inherited arrhythmias has made remarkable progress in the past few decades. More and more disease-causing genes are being identified, and there have been advances in the application of genetic testing for disease screening in individuals with disease and their family members. Determining more refined disease prevention strategies and therapeutic regimens that are tailored to the genetic characteristics and molecular pathogenesis of different groups or individuals forms the basis of individualized treatment. Understanding advances in the study of inherited arrhythmias provides important clues to better understand their pathogenesis and clinical features. This article provides a review of the pathophysiologic alterations caused by genetic variants and their relationship to disease phenotypes, including mainly cardiac ion channelopathies and cardiac conduction disorders.

Keywords: arrhythmia diseases; clinical characteristics; heredity; pathogenesis.

Publication types

  • Review

MeSH terms

  • Arrhythmias, Cardiac* / diagnosis
  • Arrhythmias, Cardiac* / genetics
  • Channelopathies / genetics
  • Channelopathies / pathology
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Mutation