title: [Arrhythmia and muscular exercise intolerance revealing lamin genetic defect in a young adult].
abstract: BACKGROUND
  Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are moderate or absent.
  
  
  METHODS
  We report a 25-year-old woman who developed severe supraventricular rhythm disturbances with exercise intolerance and elevated serum creatine kinase level. Initially the echocardiography showed normal ventricular function. Mutation in the lamin gene (LMNA) was identified. During the disease course, arrhythmia and ventricular function worsened and required cardioverter defibrillator implantation.
  
  
  CONCLUSIONS
  Laminopathies are genetic disorders among which dilated cardiomyopathy associated with skeletal muscular involvement is the most frequent phenotype, usually like Emery-Dreifuss muscular dystrophy. Other phenotypes are progeria, lipodystrophic syndromes and peripheral neuropathy. Cardiac involvement is responsible for syncope, thromboembolic events and sudden death and often requires early cardioverter defibrillator implantation.
authors.affiliation: Service de médecine interne-maladies orphelines et systémiques, pôle des spécialités médicales, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Jacquet
authors.affiliation: Département de cardiologie, pôle de médecine cardiovasculaire et réanimation médicale, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
authors.forename: B
authors.initials: B
authors.lastname: Brembilla-Perrot
authors.affiliation: Département de cardiologie, pôle de médecine cardiovasculaire et réanimation médicale, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
authors.forename: J-M
authors.initials: JM
authors.lastname: Marc Sellal
authors.affiliation: Service de médecine interne-maladies orphelines et systémiques, pôle des spécialités médicales, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
authors.forename: S
authors.initials: S
authors.lastname: Mohamed
authors.affiliation: Cabinet de cardiologie, 73, avenue Anatole-France, 54000 Nancy, France.
authors.forename: A
authors.initials: A
authors.lastname: Terrier de la Chaise
authors.affiliation: Service de médecine interne-maladies orphelines et systémiques, pôle des spécialités médicales, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France. Electronic address: p.kaminsky@chu-nancy.fr.
authors.forename: P
authors.initials: P
authors.lastname: Kaminsky
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000209:etiology; D017079:Exercise Tolerance; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D018908:Muscle Weakness / Q000175:diagnosis / Q000209:etiology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D063806:Myalgia / Q000175:diagnosis* / Q000209:etiology; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: Arrhythmia; Cardiomyopathie; Dilated cardiomyopathy; Laminopathie; Laminopathy; Myopathie; Myopathy; Troubles du rythme