Restrictive cardiomyopathy: An unusual phenotype of a lamin a variant

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Abstract

Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presenting with conduction defects followed by cardiac dysfunction of a restrictive nature eventually requiring cardiac transplantation is described. Subsequently, progressive skeletal muscle weakness became evident. The finding of a new LMNA pathologic gene variant in this patient increases the options for genetic testing of individuals with restrictive cardiomyopathy.

Original languageEnglish (US)
Pages (from-to)724-726
Number of pages3
JournalESC Heart Failure
Volume5
Issue number4
DOIs
StatePublished - Aug 2018

Keywords

  • Familial cardiomyopathy
  • LNMA-related dilated cardiomyopathy
  • Lamin A
  • Limb-girdle muscular dystrophy
  • Restrictive cardiomyopathy

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