Key result
Arrhythmogenic cardiomyopathy and Brugada syndrome share genetic and structural overlap suggesting a single disease spectrum.
Why the study?
Recent findings on cardiac cell-cell junction structure suggested ACM and BrS may share pathophysiology and represent variants of the same disease spectrum.
This review highlights the overlapping pathophysiological and structural features of Arrhythmogenic cardiomyopathy and Brugada syndrome, suggesting they may be part of the same disease spectrum.
Does not support reclassifying ACM and BrS yet; leaves open spectrum hypothesis pending prospective validation.
Arrhythmogenic cardiomyopathy (ACM) and Brugada syndrome (BrS) are inherited diseases characterized by an increased risk for arrhythmias and sudden cardiac death. Possible overlap between the two was suggested soon after the description of BrS. Since then, various studies focusing on different aspects have been published pointing to similar findings in the two diseases. More recent findings on the structure of the cardiac cell-cell junctions may unite the pathophysiology of both diseases and give further evidence to the theory that they may in part be variants of the same disease spectrum. In this review, we aim to summarize the studies indicating the pathophysiological, genetic, structural, and electrophysiological overlap between ACM and BrS.
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Ben‐Haim et al. (2020) conducted a review in Arrhythmogenic cardiomyopathy and Brugada syndrome. Arrhythmogenic cardiomyopathy and Brugada syndrome exhibit pathophysiological, genetic, and structural overlap, suggesting they may be variants of the same disease spectrum.
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