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LMNA ‐Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot‐Marie‐Tooth Type 2B1: A Patient‐Discovered Unifying Diagnosis
Author(s) -
LIANG JACKSON J.,
GOODSELL KIM,
GROGAN MARTHA,
ACKERMAN MICHAEL J.
Publication year - 2016
Publication title -
journal of cardiovascular electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.193
H-Index - 138
eISSN - 1540-8167
pISSN - 1045-3873
DOI - 10.1111/jce.12984
Subject(s) - lmna , medicine , lamin , cardiomyopathy , phenotype , mutation , genetics , dilated cardiomyopathy , cardiology , gene , bioinformatics , heart failure , biology
LMNA ‐Mediated ARVC and CMT‐Type 2B1 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.