Fig 2. Distribution of variant classes.

We genotyped 43 index-patients. Of these 18 familial and 6 sporadic cases carried (likely) pathogenic mutations. At least variants of uncertain significance were found in 4 familial and 5 sporadic cases. Only likely benign variants or variants with an allele frequency exceeding the disease prevalence were identified in 10 patients (6 familial, 4 sporadic cases). Familial disposition for the cardiomyopathy is based on pedigree analysis and family reports. Abbreviations: F = familial cases, no label = sporadic cases.