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.
· medRxiv · 0 citations