title: Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.
abstract: Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes. On muscle biopsy, a wide range of fiber sizes and small clusters of inflammatory infiltrations were found. In the rapid progression of heart failure with arrhythmias or conduction defect, accompanied with muscle atrophy and lipodystrophy, the genetic disease should be taken into consideration. In addition, undefined inflammatory response and fibrosis in the heart or skeletal muscle might further justify screening of the lamin A/C gene.
authors: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego St. 5, 02-106, Warsaw, Poland. agamadpil@gmail.com.
authors: Agnieszka
authors: A
authors: Madej-Pilarczyk
authors: Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
authors: Adam
authors: A
authors: Niezgoda
authors: 1st Department of Cardiology, Poznan University of Medical Sciences, Poznan, Poland.
authors: Magdalena
authors: M
authors: Janus
authors: Department of Histology, School of Medicine with the Division of Dentistry, Medical University of Silesia in Katowice, Zabrze, Poland.
authors: Romuald
authors: R
authors: Wojnicz
authors: 1st Department of Cardiology, Medical University of Warsaw, Banacha 1a, Warsaw, Poland.
authors: Michał
authors: M
authors: Marchel
authors: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego St. 5, 02-106, Warsaw, Poland.
authors: Anna
authors: A
authors: Fidziańska
authors: 1st Department of Cardiology, Poznan University of Medical Sciences, Poznan, Poland.
authors: Stefan
authors: S
authors: Grajek
authors: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego St. 5, 02-106, Warsaw, Poland.
authors: Irena
authors: I
authors: Hausmanowa-Petrusewicz
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000150:complications*; D005260:Female; D006333:Heart Failure / Q000150:complications*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: Cardiomyopathy; LMNA gene; Lamin A/C; Laminopathy; Limb-girdle muscular dystrophy