title: [Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].
abstract: Angelman's syndrome is an association of severe mental retardation with absence of language, ataxia, convulsions and hyperactive, joyful behaviour with frequent bouts of laughing. Genetic diagnosis is possible in about 80% of cases. No cardiovascular abnormalities have been described in this syndrome to date. The authors report the cases of three children with Angelman's syndrome who presented with severe malaise due to increased vagal tone. The age of onset of symptoms was between 20 months and 8 years. One of the children had malaises triggered by bouts of laughing. The diagnosis was confirmed in all three cases by the results of Holter 24 hour ECG recording and oculo-cardiac reflex. The treatment chosen was Diphemanil (Prantal) in the two patients under 2 years of age (after failure of a trial of betablockers in one case) and Disopyramide for the oldest child with excellent results in all cases. However, one child died suddenly at the age of 6, two years after stopping diphemanil. Based on these observations, the authors suggest that all malaises in patients with Angelman's syndrome should be investigated by Holter ECG and oculo-cardiac reflex (or tilt test). In view of the potential gravity of the syncopal attacks, long-term medical treatment seems to be justified.
authors.affiliation: Centre de cardiologie infantile du Château des Côtes, Les Logesen-Josas.
authors.forename: S
authors.initials: S
authors.lastname: Douchin
authors.forename: D
authors.initials: D
authors.lastname: Do-Ngoc
authors.forename: A M
authors.initials: AM
authors.lastname: Rossignol
authors.forename: V
authors.initials: V
authors.lastname: Lucet
authors.forename: A
authors.initials: A
authors.lastname: Joannard
authors.forename: P S
authors.initials: PS
authors.lastname: Jouk
mesh_terms: D017668:Age of Onset; D017204:Angelman Syndrome / Q000503:physiopathology* / Q000628:therapy; D002648:Child; D004176:Dipyridamole / Q000627:therapeutic use*; D015716:Electrocardiography, Ambulatory; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010276:Parasympatholytics / Q000627:therapeutic use*; D010880:Piperidines / Q000627:therapeutic use*; D012024:Reflex, Oculocardiac; D014630:Vagus Nerve / Q000503:physiopathology*; D014665:Vasodilator Agents / Q000627:therapeutic use*
chemical_list: D010276:Parasympatholytics; D010880:Piperidines; D014665:Vasodilator Agents; D004176:Dipyridamole; C028209:diphemanil methylsulfate
vernacular_title: Syndrome d'Angelman et hypertonie vagale sévère. A propos de trois observations pédiatriques.