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

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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 pathogenicLMNAmutation that offered a unifying diagnosis explaining her ARVC and Charcot-Marie-Tooth phenotypes as well as musculoskeletal abnormalities. Suspicion forLMNA-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.

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