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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

Published online by Cambridge University Press:  17 August 2015

Daniela Righi ,
Massimo S. Silvetti  and
Fabrizio Drago
Daniela Righi*
Affiliation:
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. Silvetti
Affiliation:
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 Drago
Affiliation:
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
*
Correspondence to: D. Righi, MD, Department of Pediatric Cardiology and Cardiac Surgery, Cardiac Arrhythmia Complex Unit and Syncope Unit, Bambino Gesù Children’s Hospital and Research Institute, Via Torre di Palidoro, snc, 00050 Fiumicino (Rome), Italy. Tel: +39 066 859 3559; Fax: +39 066 859 4841; E-mail: [email protected]
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Abstract

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.

Keywords

Atrial fibrillationgene mutationgenetic testingShort QT syndromesudden cardiac death
Type
Brief Reports
Information
Cardiology in the Young , Volume 26 , Issue 3 , March 2016 , pp. 589 - 592
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Copyright
© Cambridge University Press 2015 

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References

1. Gussak, I, Brugada, P, Brugada, J, et al. Idiopathic short QT interval: a new clinical syndrome? Cardiology 2000; 94: 99–102.Google Scholar
2. Hong, K, Piper, DR, Diaz-Valdecantos, A, et al. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res 2005; 68: 433–440.Google Scholar
3. Mazzanti, A, Kanthan, A, Monteforte, N, et al. Novel insight into the natural history of short QT syndrome. J Am Coll Cardiol 2014; 63: 1300–1308.CrossRefGoogle ScholarPubMed
4. Lip, GY, Nieuwlaat, R, Pisters, R, Lane, DA, Crijns, HJ. Refining clinical risk stratification for predicting stroke and thromboembolism in atrial fibrillation using a novel risk factor-based approach: the Euro Heart Survey on Atrial Fibrillation. Chest 2010; 137: 263–272.Google Scholar
5. Gaita, F, Giustetto, C, Bianchi, F, et al. Syndrome: a familial cause of sudden death. Circulation 2003; 108: 965–970.Google Scholar
6. Giustetto, C, Schimpf, R, Mazzanti, A, Maury, P, Scrocco, C, Anttonen, O. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol 2011; 58: 587–595.Google Scholar
7. Giustetto, C, Di Monte, F, Wolpert, C, et al. Syndrome: clinical findings and diagnostic therapeutic implications. Eur Heart J 2006; 27: 2440–2447.Google Scholar
8. Villafañe, J, Fischbach, P, Gebauer, R. Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. Cardiology 2014; 128: 236–240.Google Scholar
9. Maltret, A, Wiener-Vacher, S, Denis, C, et al. Type 2 short QT syndrome and vestibular dysfunction: mirror of the Jervell and Lange-Nielsen syndrome? Int J Cardiol 2014; 171: 291–293.CrossRefGoogle ScholarPubMed
10. Gaita, F, Giustetto, C, Bianchi, F, et al. Short QT syndrome: pharmacological treatment. J Am Coll Cardiol 2004; 43: 1494–1499.Google Scholar
11. Priori, SG, Wilde, AA, Horie, M, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace 2013; 15: 1389–1406.Google Scholar