Frontiers in Cardiovascular Medicine (Oct 2024)

Dilated cardiomyopathy due to novel LMNA mutation: a case report

  • Riddhi Patel,
  • Raj Patel,
  • Ekta Patel,
  • Mehul Patel

DOI
https://doi.org/10.3389/fcvm.2024.1422151
Journal volume & issue
Vol. 11

Abstract

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A case of a 44-year-old man presenting with a family history of LMNA mutation and cardiac symptoms (dizziness, weakness, palpitations, and shortness of breath) congruent with dilated cardiomyopathy. Genetic testing revealed a novel likely pathogenic mutation of the LMNA gene (c.513G>A, exon 2) not previously associated with dilated cardiomyopathy, and the patient underwent guideline direct treatment for dilated cardiomyopathy. In patients with LMNA mutations, VTA risk should be calculated to determine the need for prophylactic ICD placement.

Keywords