Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Figures

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  Figure 1. Histopathological changes in ACM. (A) Most affected heart regions in ACM. In the right ventricle, structural changes mostly affect areas of the inflow tract, the outflow tract and the apex known as the triangle of dysplasia (dashed triangle). When the left ventricle is affected, structural changes are observed in the inferior and inferolateral walls (dashed rectangle); created with BioRender.com. (B) Histopathological changes observed in ACM namely adipogenesis (left), fibrosis (middle) and presence of inflammatory infiltrates (right).

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  Figure 2. Protein re-distribution in the hearts of ACM patients. Representative confocal immunofluorescence images showing loss of junctional signal for PG, Cx43, and Nav1.5 in ACM myocardium compared to controls. Additionally, both sarcomeric and junctional signal for SAP97 is lost while GSK3β and APC translocate to the junctions. Myocardium from patients with other forms of cardiomyopathy show normal distribution of PG, Nav1.5, GSK3β and APC. Gap junction remodeling is, however, evident and ID signal for SAP97 is also lost, though its sarcomeric distribution is preserved.

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  Figure 3. Protein re-distribution in buccal mucosa cells from ACM patients. Representative confocal immunofluorescence images showing loss of PG, Cx43 and SAP97 membrane signal in buccal cells from ACM patients bearing a mutation in PKP2 or DSP compared to control subjects. Conversely, signal for GSK3β and APC shifts from cytosolic to junctional pools. The patient bearing a mutation in PKP2 shows loss of PKP1 signal but not DSP while the patient bearing a mutation in DSP shows loss of DSP signal but not PKP1. Immunoreactive signal of PG, Cx43, PKP1, DSP, SAP97, GSK3β and APC in red; nuclei were counterstained with DAPI in blue.