Characterization of cardiac involvement in patients with LMNA splice-site mutation –related dilated cardiomyopathy and sudden cardiac death

Discussion: Above all, Cardiaccardiac involvement in patients with LMNA splice-site mutation presented with a high rate of SCD. Implanting a pacemaker significantly reduced the SCD rate in non-DCM patients with AVB. The pathogenic characterization was not only haveinvolved suppressed the expression of the healthy LMNA allele, but was also associated with abnormal expression and distribution of desmin and Cx43.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research