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Brugada syndrome and arrhythmogenic cardiomyopathy: overlapping disorders of the connexome?

Yael Ben-Haim1,2, Angeliki Asimaki1,2, Elijah R Behr1,2

  • 1Institute of Molecular and Clinical Sciences, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
|November 17, 2020
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) and Brugada syndrome (BrS) may be variants of the same inherited heart disease spectrum. Research highlights overlapping pathophysiology, genetics, and structural/electrophysiological findings, suggesting a shared disease basis.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) and Brugada syndrome (BrS) are inherited cardiac conditions.
  • Both diseases increase the risk of arrhythmias and sudden cardiac death.
  • An overlap between ACM and BrS has been hypothesized.

Purpose of the Study:

  • To review and summarize studies investigating the overlap between ACM and BrS.
  • To explore shared pathophysiological, genetic, structural, and electrophysiological characteristics.
  • To provide evidence for ACM and BrS as potential variants of a single disease spectrum.

Main Methods:

  • Literature review of studies on ACM and BrS.
  • Analysis of genetic, structural, and electrophysiological data.
  • Synthesis of findings related to cardiac cell-cell junction structure and function.

Main Results:

  • Studies indicate significant overlap in genetic mutations and ion channel dysfunction.
  • Structural abnormalities in cardiac desmosomes and intercalated discs are observed in both.
  • Electrophysiological findings reveal similarities in ventricular and atrial electrical activity.

Conclusions:

  • ACM and BrS share common underlying mechanisms and genetic predispositions.
  • Cardiac cell-cell junction alterations may be a unifying factor.
  • These findings support the concept of ACM and BrS existing on a disease spectrum.

Keywords:
Arrhythmogenic cardiomyopathy Brugada syndrome Genetics Connexome

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