title: Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene.
abstract: We herein present a report of three patients with Becker muscular dystrophy in the same family who developed complete atrioventricular block or ventricular tachycardia with severe cardiomyopathy. Our cases became unable to walk in their teens, and were introduced to mechanical ventilation due to respiratory muscle weakness in their twenties and thirties. In all three cases, a medical device such as a permanent cardiac pacemaker or an implantable cardiac defibrillator was considered to be necessary. The duplication of exons 3-4 in the dystrophin gene was detected in two of the patients. In patients with Becker muscular dystrophy, complete atrioventricular block or ventricular tachycardia within a family has rarely been reported. Thus attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy.
authors.affiliation: Department of Neurology, National Hospital Organization, Kumamoto Saishunsou National Hospital, Japan.
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ishizaki
authors.forename: Akiko
authors.initials: A
authors.lastname: Fujimoto
authors.forename: Hidetsugu
authors.initials: H
authors.lastname: Ueyama
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Nishida
authors.forename: Shigehiro
authors.initials: S
authors.lastname: Imamura
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchino
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
mesh_terms: D000293:Adolescent; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000503:physiopathology; D010138:Pacemaker, Artificial; D017180:Tachycardia, Ventricular / Q000235:genetics*
chemical_list: D016189:Dystrophin