title: Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study.
abstract: This study reports a family affected by a new phenotype associated with dilated cardiomyopathy and quadriceps myopathy.
  
  
  METHODS
  29 family members underwent a physical and neurological examination, including an electromyogram and biopsy of muscle abnormalities. A cardiac examination was performed in all subjects.
  
  
  RESULTS
  The family pedigree (n=72) demonstrated that transmission was autosomal dominant. Eleven subjects had cardiac involvement, only four had quadriceps muscle involvement. Cardiac impairment preceded neurological involvement. The mean age for neurological involvement was 44+/-0.8 years (range 43-45) and cardiac involvement was 37+/-7.9 years (range: 24-45). Cardiac involvement consisted of: hypokinetic dilated cardiomyopathy (64%); atrial fibrillation (100%); ventricular arrhythmias (64%); impaired conduction with bundle branch or complete atrio ventricular block (73%). Four patients required pacemakers and anti arrhythmic therapies. Four patients died: two of refractory heart failure and two of sudden death; two patients were resuscitated following cardiac arrest. Three patients required a prophylactic implantable cardiac defibrillator (ICD). Muscle morphological abnormalities were characterized by a variable number of fibers with rimmed vacuoles. The quadriceps deteriorated progressively without impairment of other muscles. Genotypic study showed a lamin A/C gene mutation.
  
  
  CONCLUSIONS
  This family was affected by a new phenotype composed of an autosomal dominant severe dilated cardiomyopathy with conduction defects or arrhythmias and quadriceps myopathy. Cardiac abnormalities preceded neuromuscular disorders and defined the prognosis of this disease.
authors.affiliation: Service de Cardiologie, Avicenne Hospital, Paris XIII University, Bobigny, France. jean-christophe.charniot@avc.ap-hop-paris.fr
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Charniot
authors.forename: Michel
authors.initials: M
authors.lastname: Desnos
authors.forename: Khaled
authors.initials: K
authors.lastname: Zerhouni
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonnefont-Rousselot
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Albertini
authors.forename: Jeffrey Zaketto
authors.initials: JZ
authors.lastname: Salama
authors.forename: Guillaume
authors.initials: G
authors.lastname: Bassez
authors.forename: Michel
authors.initials: M
authors.lastname: Komajda
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Artigou
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D052097:Quadriceps Muscle
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A