Case Report: Family Curse: An Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia.

OBJECTIVE

We report a 3-generation family with c.611 C>A rare variant, whose clinical characteristics are dilated cardiomyopathy (DCM) combined with multifocal ectopic Purkinje-related premature contractions (MEPPC). We tried to explain why the same variant carriers had different phenotypes.

METHODS

We collected the clinical data from the family, and followed up this family members. Genetic testing was done for whom DNA samples could be collected.

RESULTS

Information was collected from 15 people in this family, 8 of whom had genetic testing. The variant was present in all patients of this family, whose clinical features showed DCM combined with MEPPC. The proband's children developed DCM and MEPPC in their childhood. They both carried a p.A204E mutation from their mother and a mutation p.D372N from their father. The son did heart transplant and his heart was both dilated and thickened. The pathology confirmed the presence of glycogen accumulation in the myocardium, which were consistent with the diagnosis of syndrome.

CONCLUSION

SCN5A c.611 C>A variant was related to DCM combined with MEPPC. This case report is the first to demonstrate that a combination of and mutations can cause DCM plus MEPPC and Syndrome.