title: Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance.
abstract: OBJECTIVE
  A familial case of restrictive cardiomyopathy due to desmin accumulation characterized by severe disturbances of cardiac conduction is described.
  
  
  BACKGROUND
  Desmin is an intermediate filament normally present in the myocardium, particularly in the Purkinje fibres, in the skeletal and in the smooth muscle.
  
  
  METHODS
  Resting electrocardiogram, 2-dimensional and Doppler echocardiogram, cardiac catheterization, electrophysiological study have been performed in all siblings. Informed consent for endomyocardial biopsy was obtained only in one patient.
  
  
  RESULTS
  The mother showed bilateral pes cavus and complained of episodes of vertigo at the age of 36 years. At that time she was submitted to electrophysiological study and to permanent pacing. After 15 years of good health conditions, she developed heart failure and underwent cardiac transplantation. A 21 year old son had a syncope; his ECG was similar to that of his mother; a permanent pacemaker was implanted and a diagnosis of restrictive cardiomyopathy with desmin accumulation was confirmed at histopathology study. Afterwards, another 24 year old sib had a syncope with head trauma: ECG showed right atrial enlargement, left bundle branch block. After electrophysiological study, he started antiarrhythmic therapy. This patient showed bilateral pes cavus.
  
  
  CONCLUSIONS
  The early manifestation of desmin accumulation may be intraventricular conduction disorders that can be often controlled by pacemaker implantation. Clinical symptoms of heart failure may be absent for a long period of time. Pedigree analysis is most consistent of autosomal dominant inheritance.
authors.affiliation: I Division of Cardiology, St Camillo Hospital, Roma.
authors.forename: E
authors.initials: E
authors.lastname: Zachara
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: E
authors.initials: E
authors.lastname: Lioy
authors.forename: R
authors.initials: R
authors.lastname: Boldrini
authors.forename: P L
authors.initials: PL
authors.lastname: Prati
authors.forename: C
authors.initials: C
authors.lastname: Bosman
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D002313:Cardiomyopathy, Restrictive / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D003893:Desmin / Q000378:metabolism*; D004452:Echocardiography; D017548:Echocardiography, Transesophageal; D004562:Electrocardiography; D005260:Female; D005799:Genes, Dominant; D006329:Heart Conduction System / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D010138:Pacemaker, Artificial; D011690:Purkinje Fibers / Q000502:physiology / Q000648:ultrastructure
chemical_list: D003893:Desmin