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Lamin A/C gene (LMNA) and idiopathic dilated cardiomyopathy

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Despite the many known intrinsic causes, eg. coronary atherosclerosis, and extrinsic causes, eg. catecholamine excess, of dilated cardiomyopathy, there remain many patients with dilated cardiomyopathy of unknown cause.

Some facts concerning idiopathic dilated cardiomyopathy are given below:

  • 20-50% of patients affected with idiopathic dilated cardiomyopathy have familial disease (1,3)

  • a genetic defect in the promoter region and the first exon of the X-chromosome gene that codes for the protein dystrophin has been shown to be the cause of one familial form of this condition. This in effect has led to the establishment of a further cause of dilated cardiomyopathy; but also suggests that other cases of idiopathic cardiomyopathy may be due to defects in the production of cardiac dystrophin (2)

  • 20% to 50% of idiopathic dilated cardiomyopathy cases have familial causation
    • approximately 6% of all DCM cases are caused by mutations in the lamin A/C gene (LMNA)
    • more than 60 genes including the lamin A/C gene (LMNA) have been associated with dilated cardiomyopathy (DCM)
      • LMNA codes for type-V intermediate filaments that support the structure of the nuclear membrane and are involved in chromatin structure and gene expression
        • most LMNA mutations result in striated muscle diseases while the rest affects the adipose tissue, peripheral nervous system, multiple tissues or lead to progeroid syndromes/overlapping syndromes
      • pattern of the disease inheritance is mostly autosomal dominant
      • only 30 to 35% of familial DCM follow the Mendelian model of disease inheritance while the remaining have a more complex multi - variant origin, which also encompasses the non - rare variants
        • majority of the cases, incomplete age - relaed penetrance is observed
          • reported that seven percent of LMNA mutation carriers exhibit cardiac - related phenotypes if under 20 years of age, 66% when carriers are between 20 and 39, 86% when carriers are between 40 and 59 years, and 100% when carriers are over 60 years of age

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