title: Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease).
abstract: We present a case of a 43-year-old male patient with adult onset of spinal muscular atrophy (SMA). The patient first came to our attention with atrioventricular (AV) block. A dual-chamber pacemaker (DDD-PM) was implanted. Four years later, the PM data log showed occurrence of frequent episodes of nonsustained ventricular tachycardia (NSVT). The episodes progressed in duration and frequency. An electrophysiological study revealed prolonged His-ventricular (HV) interval duration and induction of sustained ventricular tachycardia. The patient was successfully upgraded to a prophylactic dual-chamber cardioverter defibrillator. Our case is the first description of a patient with adult-onset SMA (Kugelberg-Welander disease [KWD]) and malignant ventricular arrhythmias.
authors.affiliation: Heart Rhythm Management Center, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium. roosmarkus@bluewin.ch
authors.forename: Markus
authors.initials: M
authors.lastname: Roos
authors.forename: Andrea
authors.initials: A
authors.lastname: Sarkozy
authors.forename: Gian Battista
authors.initials: GB
authors.lastname: Chierchia
authors.forename: Philippe
authors.initials: P
authors.lastname: De Wilde
authors.forename: Eric
authors.initials: E
authors.lastname: Schmedding
authors.forename: Pedro
authors.initials: P
authors.lastname: Brugada
mesh_terms: D000328:Adult; D002304:Cardiac Pacing, Artificial / Q000379:methods*; D006801:Humans; D008297:Male; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D017180:Tachycardia, Ventricular / Q000150:complications / Q000175:diagnosis* / Q000517:prevention & control*; D016896:Treatment Outcome