RESUMEN
AIMS: Andersen-Tawil syndrome (ATS) is an uncommon form of channelopathy linked to mutations in the KCNJ2 gene. Currently, little is known about the long-term arrhythmic prognosis of this disease. METHODS AND RESULTS: We conducted a retrospective multicentre study in nine French hospitals. Patients were recruited only if they were KCNJ2 mutation carriers. Thirty-six patients (female n = 22, 61%) from 20 unrelated kindred were included with a mean follow-up of 9.5 ± 8.2 years. We found 12 distinct KCNJ2 mutations in the 20 probands. Three of them were novel. Thirteen patients (36%) experienced syncope and one patient was resuscitated from cardiac arrest before diagnosis. The mean QTc interval was 439 ± 57 ms and QUc was 642 ± 64 ms. All patients had normal ejection fraction. Holter recordings in 33 patients found 11 272 premature ventricular complexes (PVCs) per day on average, 25 patients had episodes of bigeminy, and 25 patients had polymorphic PVCs. Twenty-three patients (70%) had non-sustained polymorphic ventricular tachycardia (VT), and six sustained polymorphic VT. Only one patient presented with torsades de pointes. Patients were treated with beta-blocker (n = 20), beta-blocker and amiodarone (n = 2), beta-blocker and flecainide (n = 6), or acetazolamide (n = 6). Radiofrequency ablation was attempted in five patients without clinical success. An implantable cardiac defibrillator was implanted in three patients. During follow-up, none of the patients died, four patients experienced syncope under treatment, and one patient had non-fatal cardiac arrest. CONCLUSION: Despite a severe clinical presentation with a very high rate of ventricular arrhythmias, the arrhythmic prognosis of the ATS patients is relatively good under treatment.
Asunto(s)
Síndrome de Andersen/genética , Mutación , Canales de Potasio de Rectificación Interna/genética , Adolescente , Adulto , Anciano , Síndrome de Andersen/complicaciones , Síndrome de Andersen/diagnóstico , Síndrome de Andersen/fisiopatología , Síndrome de Andersen/terapia , Niño , Preescolar , Análisis Mutacional de ADN , Electrocardiografía , Femenino , Francia , Predisposición Genética a la Enfermedad , Paro Cardíaco/genética , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Pronóstico , Estudios Retrospectivos , Síncope/genética , Factores de Tiempo , Adulto JovenRESUMEN
ABSTRACT: An 84-year-old man was referred for the evaluation of a suspected gastrointestinal neoplasia. 18F-FDG PET/CT scan was performed showing, in addition to the physiological myocardial FDG uptake in the left ventricular wall, an unusual diffuse FDG uptake of the bilateral atrial walls. During his visit to the nuclear medicine unit, the patient became unwell, and an ECG was performed, suggestive of an atrioventricular nodal re-entrant tachycardia. Our case highlights the importance of including supraventricular arrhythmia such as atrioventricular nodal re-entrant tachycardia in the differential diagnosis of atrial FDG uptake.