Table 1.
Clinical characteristics for Task Force Criteria (TFC) score.
Figure 1.
Representation of genetic results.
A- Prevalence of mutations in desmosomal genes. B- Prevalence of truncating protein mutations (black) and missense mutations (grey).
Table 2.
Mutations identified in index cases.
Figure 2.
Representation of PKP2 domains.
A- Representation of wild type PKP2. It has HR2 domain and armadillo repeats domain (8 armadillo repeats, ARM). B- Representation of truncated PKP2 (PKP2TR) and their domains. PKP2TR p.92* and p.V202Vfs215* only have HR2 domain but not any of ARM repeats, p.R413* loses partially ARM 3 to C-terminus, and p.548fs562* loses partially ARM 4, p.Q638* conserve completely ARM 4 but loses the rest of protein until to C-terminus and p.R735* loses partially ARM6 to C-terminus. PKP2TR p.K859V*881ent*48 extends their length to 930 amino acids.
Figure 3.
Symptom-free Kaplan-Meier graph.
Kaplan–Meier graph shows percentage of free of sympthops in carriers based on age. A cross represents carriers with no ARVC phenotype by the time of the study (censored cases).
Figure 4.
ARVC clinically affected individuals (grey round/square) and genetic carriers (black point inside round/square), not evaluated (question mark inside round/square), death (round/square with slash) and sudden death (grey round/square with slash). A- Family A. Index case is III.4 and carries c.2203 C>G (p.R735*) in PKP2. B- Family B. Index case is III.2 and carries c.2013delC (p.P671Pfs12*) in PKP2. C- Family C. Index case is II.4 and carries c.1912C>T (p.Q638*) in PKP2. D- Family D. Index case is II.1 and carries c.1237C> T (p.R413*). E- Family E. Index case is III.2, who carries a homozygous c.2440T>C (p.C814R) variation in the DSG2 gene.