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. 2022 Sep 26;146(15):1123–1134. doi: 10.1161/CIRCULATIONAHA.121.058457

Figure 2.

Figure 2.

Detailed review of the genotype and phenotype of all cases with truncating variants of known pathogenicity in DSP. Cardiac magnetic resonance short-axis images (T2-STIR sequence for myocardial oedema, top; late gadolinium enhancement, bottom) are presented for the 3 cases from London and histopathology for the 1 case from Maastricht. Images are taken at 100 µm and demonstrate staining for (A) hematoxylin-eosin, (B) CD45, (C) CD68, and (D) Sirius red. ACM indicates arrhythmogenic cardiomyopathy; FHx, family history; gnomAD, Genome Aggregation Database; Het, heterogeneous; LVEF, left ventricular ejection fraction; P, patient; SCD, sudden cardiac death; and Trop, troponin.