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Author

E. Elchinova

1 paper indexed here

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Open access Aug 2026

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

A novel ACM phenotype in patients homozygous for the DSG2 founder variant c.523+2T>C characterized by left ventricular apical fibrosis is identified and highlights a novel pathological feature of ACM and the need for variant and phenotype-specific therapy.

S. A. Hemkemeyer, S. Quintiliani, A. Schaller et al. · 0 citations

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