LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis

Jackson J. Liang, Kim Goodsell, Martha Grogan, Michael John Ackerman

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an uncommon cardiomyopathy most classically associated with mutations in genes encoding desmosomal proteins. Recent literature has identified mutations in several non-desmosomal proteins including lamins that may result in the ARVC phenotype. We describe a patient who discovered her own pathogenic LMNA mutation that offered a unifying diagnosis explaining her ARVC and Charcot-Marie-Tooth phenotypes as well as musculoskeletal abnormalities. Suspicion for LMNA-mediated cardiomyopathy should arise in patients with extracardiac manifestations of laminopathies and testing for specific gene mutations may be helpful in establishing an unifying diagnosis.

Original languageEnglish (US)
Pages (from-to)868-871
Number of pages4
JournalJournal of Cardiovascular Electrophysiology
Volume27
Issue number7
DOIs
StatePublished - Jul 1 2016
Externally publishedYes

    Fingerprint

Keywords

  • arrhythmia
  • arrhythmogenic right ventricular cardiomyopathy
  • ARVC/D
  • cardiomyopathy
  • Charcot-Marie-Tooth
  • genetics
  • lamin

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this