Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

Acta Myol. 2019 Sep 1;38(3):159-162. eCollection 2019 Sep.

Abstract

In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal fibrosis, heart failure and thromboembolic complications.

Keywords: cardiolaminopathies; familial dilated cardiomyopathy; lamin A/C.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies / diagnostic imaging*
  • Cardiomyopathies / genetics*
  • Death, Sudden, Cardiac
  • Female
  • Frameshift Mutation
  • Humans
  • Lamin Type A / genetics*
  • Magnetic Resonance Imaging*
  • Male
  • Pedigree
  • Phenotype

Substances

  • Lamin Type A