Key result
A pathogenic LMNA mutation provided a unifying diagnosis for a patient's arrhythmogenic right ventricular cardiomyopathy, Charcot-Marie-Tooth phenotypes, and musculoskeletal abnormalities.
Case Report (n=1)
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LMNA mutations should be suspected in patients presenting with ARVC and extracardiac manifestations of laminopathies.
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.
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Liang et al. (2016) conducted a case report in Arrhythmogenic right ventricular cardiomyopathy and Charcot-Marie-Tooth Type 2B1 (n=1). LMNA mutation was evaluated. A pathogenic LMNA mutation provided a unifying diagnosis for a patient's arrhythmogenic right ventricular cardiomyopathy, Charcot-Marie-Tooth phenotypes, and musculoskeletal abnormalities.
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