title: LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis.
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.
authors.affiliation: Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.|Division of Cardiology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Jackson J
authors.initials: JJ
authors.lastname: Liang
authors.affiliation: Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Martha
authors.initials: M
authors.lastname: Grogan
authors.affiliation: Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.|Division of Pediatric Cardiology, Department of Pediatrics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.|Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
authors.forename: Kim
authors.initials: K
authors.lastname: Goodsell
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D000083083:Laminopathies; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: ARVC/D; Charcot-Marie-Tooth; arrhythmia; arrhythmogenic right ventricular cardiomyopathy; cardiomyopathy; genetics; lamin