Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem.
We describe the case of an asymptomatic girl with sinus bradycardia and short QT interval at birth, junctional bradycardia in infancy requiring single-chamber pacemaker, atrial fibrillation in adolescence, and V141M mutation in the KCNQ1 gene. Atrial fibrillation recurred and became unresponsive to electrical or anti-arrhythmic therapy. During 20 years of follow-up, a progressive evolution from sinus node dysfunction to low-rate atrial fibrillation was observed.
Department of Pediatric Cardiology and Cardiac Surgery,Cardiac Arrhythmia Complex Unit and Syncope Unit,Bambino Gesù Children's Hospital and Research Institute,Fiumicino (Rome),Italy.
Daniela
D
Righi
Department of Pediatric Cardiology and Cardiac Surgery,Cardiac Arrhythmia Complex Unit and Syncope Unit,Bambino Gesù Children's Hospital and Research Institute,Fiumicino (Rome),Italy.
Massimo S
MS
Silvetti
Department of Pediatric Cardiology and Cardiac Surgery,Cardiac Arrhythmia Complex Unit and Syncope Unit,Bambino Gesù Children's Hospital and Research Institute,Fiumicino (Rome),Italy.
Fabrizio
F
Drago
D000293:Adolescent; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use*; D001145:Arrhythmias, Cardiac / Q000628:therapy*; D001281:Atrial Fibrillation / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D009154:Mutation; D010138:Pacemaker, Artificial / Q000009:adverse effects*; D012804:Sick Sinus Syndrome / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
D000889:Anti-Arrhythmia Agents; D051657:KCNQ1 Potassium Channel
Atrial fibrillation; Short QT syndrome; gene mutation; genetic testing; sudden cardiac death