Pediatric Cardiology

, Volume 33, Issue 6, pp 980–987

Genetic Testing of Inherited Arrhythmias

Riley Symposium

DOI: 10.1007/s00246-012-0287-7

Cite this article as:
Napolitano, C. Pediatr Cardiol (2012) 33: 980. doi:10.1007/s00246-012-0287-7

Abstract

Syncope and risk of sudden death due to ventricular tachyarrhythmia are the common manifestations of several inherited disorders. Abnormalities of the genetic makeup may directly affect proteins controlling cardiac excitability in a structurally normal heart. Other diseases manifest primarily with ventricular arrhythmias even though the genetic mutations cause structural abnormalities of the myocardium. This is the case of arrhythmogenic right ventricular cardiomyopathy and hypertrophic cardiomyopathy. Groundbreaking discoveries, starting from the 1990s until the beginning of the current decade, have provided fundamental knowledge on the major genes that confer an increased risk of arrhythmias and sudden death. Stems of such knowledge are the availability of genetic diagnosis, genotype–phenotype correlation, and genotype-based risk stratification schemes currently used in the clinical practice. This review provides a concise description of the known genes and key mechanisms involved in the pathogenesis of inherited arrhythmias. In addition, we outline possibilities, limitations, advantages, and potential threats of genetically screening for these genes.

Keywords

GeneticsCardiac arrhythmiasSudden deathIon channelsCardiac electrophysiology

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Molecular Cardiology LaboratoriesIRCCS Fondazione Salvatore MaugeriPaviaItaly
  2. 2.Cadiovascular Genetics, Leon Charney Division of CardiologyNew York University Medical CenterNew YorkUSA