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Channelopathies as Causes of Sudden Cardiac Death

Peter J Schwartz1, Michael J Ackerman2, Arthur A M Wilde3

  • 1Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, c/o Centro Diagnostico e di Ricerca S. Carlo, Via Pier Lombardo, 22, Milan 20135, Italy.

Cardiac Electrophysiology Clinics
|November 28, 2017
PubMed

Insights

This review covers key clinical features of three heart rhythm disorders: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. Advances in genetics are increasingly guiding personalized treatment strategies for these channelopathies.

Area of Science:

  • Cardiology
  • Genetics
  • Clinical Medicine

Background:

  • Channelopathies are a group of cardiac disorders arising from ion channel dysfunction.
  • Long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome are distinct genetic channelopathies.
  • These conditions predispose individuals to life-threatening ventricular arrhythmias.

Purpose of the Study:

  • To review the clinical presentation, diagnosis, and management of three major channelopathies.
  • To highlight the role of genetic understanding in risk stratification and therapy.
  • To discuss the emerging impact of gene-specific management, particularly for long QT syndrome.

Main Methods:

  • Review of clinical literature and expert opinion.
  • Synthesis of current knowledge on diagnosis and risk assessment.
  • Analysis of therapeutic approaches, including genetic-guided strategies.

Main Results:

  • Detailed summary of clinical manifestations and diagnostic criteria for each channelopathy.
  • Discussion of risk stratification tools and their limitations.
  • Overview of current and evolving treatment options, emphasizing genetic insights.

Conclusions:

  • Accurate diagnosis and risk stratification are crucial for managing these channelopathies.
  • Genetic advancements are transforming the therapeutic landscape, enabling personalized medicine.
  • Gene-specific management offers improved outcomes, especially for long QT syndrome.

Keywords:
Brugada syndromeCatecholaminergic polymorphic ventricular tachycardiaGenetic testingIon channelsLeft cardiac sympathetic denervationLong QT syndromeRyanodine receptor

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