title: Dilated cardiomyopathy in patients with mutations in anoctamin 5.
abstract: BACKGROUND
  Homozygous mutations in ANO5, a gene encoding anoctamin 5, a putative calcium-activated chloride channel, have recently been reported in patients with adult-onset myopathies or isolated high-CK levels. Cardiomyopathy has not previously been reported in these populations despite a proven expression of anoctamin 5 in the cardiac muscle.
  
  
  METHODS
  Patients presenting for the management of high-CK levels or overt myopathy with proven ANO5 mutations were prospectively investigated between June 2010 and March 2012 in Pitié Salpêtrière Hospital, according to a standardised protocol. Neurological and cardiological clinical examinations, CK assessment, electrocardiogram (ECG), and echocardiography were performed, as well as cardiac MRI and coronary CT angiography in patients with left ventricular (LV) dysfunction.
  
  
  RESULTS
  Our study included 19 consecutive patients (male=15, age=46.2 ± 12.7 years) from 16 families. Five had asymptomatic high-CK levels and 14 had overt myopathy. One patient had a personal history of stable coronary artery disease with normal ventricular function. ECG showed ventricular premature beats in one patient. Echocardiography displayed LV dilatation in two patients, LV dysfunction in one, and both abnormalities in two who fulfilled criteria for dilated cardiomyopathy which was confirmed by cardiac MRI and normal CT angiography.
  
  
  CONCLUSIONS
  Dilated cardiomyopathy is a potential complication in patients with myopathies due to mutations in the ANO5 gene whose screening requires specific procedures.
authors.affiliation: AP-HP, GH Pitié Salpêtrière, Centre de Référence de Pathologie neuromusculaire Paris Est, Institut de Myologie, Paris, France. karim.wahbi@psl.aphp.fr
authors.forename: K
authors.initials: K
authors.lastname: Wahbi
authors.forename: A
authors.initials: A
authors.lastname: Béhin
authors.forename: H M
authors.initials: HM
authors.lastname: Bécane
authors.forename: F
authors.initials: F
authors.lastname: Leturcq
authors.forename: M
authors.initials: M
authors.lastname: Cossée
authors.forename: P
authors.initials: P
authors.lastname: Laforêt
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
authors.forename: P
authors.initials: P
authors.lastname: Carlier
authors.forename: M
authors.initials: M
authors.lastname: Toussaint
authors.forename: V
authors.initials: V
authors.lastname: Gaxotte
authors.forename: P
authors.initials: P
authors.lastname: Cluzel
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: D
authors.initials: D
authors.lastname: Duboc
mesh_terms: D000328:Adult; D000368:Aged; D000075368:Anoctamins; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D018118:Chloride Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011446:Prospective Studies
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels