Article

A Swiss <i>DSG2</i> Founder Variant Promotes Left Ventricular Thrombus Formation Causing Cardioembolic Stroke in Autosomal Recessive Arrhythmogenic Cardiomyopathy

2026-08-18

Abstract excerpt

<h4>Aims</h4> Arrhythmogenic cardiomyopathy (ACM) is a genetic disease defined by arrhythmias and myocardial fibrosis with impaired cardiac function and increased risk of sudden cardiac death. Pathogenic variants are mostly identified in desmosomal genes such as desmoglein-2 ( DSG2 ). We identified a novel disease phenotype in patients homozygous for the DSG2 variant c.523+2T>C (splice site of exon 5/intron 5),...

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Literature Corpus work: a0ef1eef-d566-5b06-9df0-f7970e0c2748
DOI: 10.64898/2026.08.17.26359854

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