Genetic Disorders of the Cardiac Impulse

  • Adam S. Helms
  • Patricia L. Arscott
  • Stephanie Wechsler
  • Mark W. Russell

Abstract

Heritable cardiac arrhythmias and cardiac conduction disorders are rare yet potentially fatal disorders that may involve any phase of cardiac impulse generation, propagation, or electrochemical recovery. To date, they include long QT syndrome (LQTS), short QT syndrome, Brugada syndrome, Andersen syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), familial heart block (often with atrial septal defects), arrhythmogenic right ventricular cardiomyopathy (ARVC), hypertrophic cardiomyopathy, dilated cardiomyopathy, and familial atrial fibrillation. Molecular genetic characterization of patients and families with these disorders has led to important advances in the understanding of arrhythmia generation and improved prospects for diagnosis and treatment.

These disorders can be grouped into several main categories as follows: ion channel disorders or channelopathies, conduction system abnormalities, and cardiomyopathies.

Keywords

Andersen syndrome Arrhythmogenic right ventricular cardiomyopathy (AVRC) Atrial fibrillation Brugada syndrome Catecholaminergic polymorphic ventricular tachycardia (CPVT) Dilated cardiomyopathy (DCM) Familial heart block Genetic testing Hypertrophic cardiomyopathy (HCM) Long QT syndrome Short QT syndrome 

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Copyright information

© Springer Science+Business Media, New York 2015

Authors and Affiliations

  • Adam S. Helms
    • 1
  • Patricia L. Arscott
    • 2
  • Stephanie Wechsler
    • 3
  • Mark W. Russell
    • 2
  1. 1.Department of Internal MedicineUniversity of Michigan Health SystemsAnn ArborUSA
  2. 2.Pediatric Cardiology, The University of Michigan Congenital Heart Center, Department of Pediatrics and Communicable DiseasesUniversity of MichiganAnn ArborUSA
  3. 3.Department of Pediatric CardiologyDUMC 3090DurhamUSA

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