A novel lamina/cmutationinafamilywith dilated cardiomyopathy andastrong history of sudden cardiac death | Identificazione di una nuova mutazione nel gene della lamina a/c in una famiglia con cardiomiopatia dilatativa e storia di morte improvvisa

Diseases related to lamin A/C mutations (laminopathies) are extremely heterogeneous. The common cardiac phenotype is idiopathic dilated cardiomyopathy with atrioventricular block and/or arrhythmias. Moreover, patients with lamin A/C gene mutations are at increased risk for sudden cardiac death. Here we present a family with a strong positive history of sudden cardiac death in presence of idiopathic dilated cardiomyopathy and cardiac conduction abnormalities, related to a novel lamin A/C mutation in exon 3.