Visual Abstract - Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2: 10.1016/j.jacbts.2018.12.001
2019-06-13T11:02:46Z (GMT) by
• The homozygous c.38T>G mutation in the LEMD2 gene causes arrhythmic cardiomyopathy with bilateral juvenile cataract in the Hutterite population.
• The cardiac phenotype is characterized by localized inferior and inferolateral fibrosis of the left ventricle and mild impairment of left ventricular systolic function but severe ventricular arrhythmias leading to sudden cardiac death.
• Affected heart tissue and fibroblasts exhibit abnormally shaped nuclei with condensed peripheral heterochromatin.
• Functional assays on affected fibroblasts show decreased proliferation capacity, cellular senescence, and a prolonged G1 phase, suggesting premature aging and cellular senescence in proliferating cells.