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      About Journal of Vascular Research: 1.8 Impact Factor I 3.4 CiteScore I 0.486 Scimago Journal & Country Rank (SJR)

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      Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.

      Author(s): 1 , ,
      Publication date (Electronic):
      Journal: Cardiology
      Publisher: S. Karger AG

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          Abstract

          Atrial fibrillation (AF) is rare during childhood and usually associated with other cardiovascular pathology. In lone AF, the ventricular response rate is usually rapid. We sought to describe a subset of children who present with early-onset AF and a slow ventricular response rate who were found to have the short QT syndrome (SQTS).

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          Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

          Chloé Bellocq, Antoni C. G. van Ginneken, Connie Bezzina … (2004)
          The electrocardiographic short QT-interval syndrome forms a distinct clinical entity presenting with a high rate of sudden death and exceptionally short QT intervals. The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genetically heterogeneous and can also be caused by mutation in the KCNQ1 gene. A 70-year man presented with idiopathic ventricular fibrillation. Both immediately after the episode and much later, his QT interval was abnormally short without any other physical or electrophysiological anomalies. Analysis of candidate genes identified a g919c substitution in KCNQ1 encoding the K+ channel KvLQT1. Functional studies of the KvLQT1 V307L mutant (alone or coexpressed with the wild-type channel, in the presence of IsK) revealed a pronounced shift of the half-activation potential and an acceleration of the activation kinetics leading to a gain of function in I(Ks). When introduced in a human action potential computer model, the modified biophysical parameters predicted repolarization shortening. We present an alternative molecular mechanism for the short QT-interval syndrome. Functional and computational studies of the KCNQ1 V307L mutation identified in a patient with this disorder favor the association of short QT with mutation in KCNQ1.
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            De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

            Michael C. Sanguinetti, José Santos, Matthew Piper … (2005)
            We describe a genetic basis for atrial fibrillation and short QT syndrome in utero. Heterologous expression of the mutant channel was used to define the physiological consequences of the mutation. A baby girl was born at 38 weeks after induction of delivery that was prompted by bradycardia and irregular rythm. ECG revealed atrial fibrillation with slow ventricular response and short QT interval. Genetic analysis identified a de novo missense mutation in the potassium channel KCNQ1 (V141M). To characterize the physiological consequences of the V141M mutation, Xenopus laevis oocytes were injected with cRNA encoding wild-type (wt) KCNQ1 or mutant V141M KCNQ1 subunits, with or without KCNE1. Ionic currents were recorded using standard two-microelectrode voltage clamp techniques. In the absence of KCNE1, wtKCNQ1 and V141M KCNQ1 currents had similar biophysical properties. Coexpression of wtKCNQ1+KCNE1 subunits induced the typical slowly activating and voltage-dependent delayed rectifier K(+) current, I(Ks). In contrast, oocytes injected with cRNA encoding V141M KCNQ1+KCNE1 subunits exhibited an instantaneous and voltage-independent K(+)-selective current. Coexpression of V141M and wtKCNQ1 with KCNE1 induced a current with intermediate biophysical properties. Computer modeling showed that the mutation would shorten action potential duration of human ventricular myocytes and abolish pacemaker activity of the sinoatrial node. The description of a novel, de novo gain of function mutation in KCNQ1, responsible for atrial fibrillation and short QT syndrome in utero indicates that some of these cases may have a genetic basis and confirms a previous hypothesis that gain of function mutations in KCNQ1 channels can shorten the duration of ventricular and atrial action potentials.
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              Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

              Martin Borggrefe, G Leone, Pascal Sbragia … (2006)
              Clinical presentation, occurrence of sudden infant death, and results of the available therapies in the largest group of patients with short QT syndrome (SQTS), studied so far, are reported. Clinical history, physical examination, electrocardiogram (ECG), exercise stress testing, electrophysiological study, morphological evaluation, genetic analysis and therapy results in 29 patients with SQTS and personal and/or familial history of cardiac arrest are reported. The median age at diagnosis was 30 years (range 4-80). In all subjects, structural heart disease was excluded. Eighteen patients were symptomatic (62%): 10 had cardiac arrest (34%) and in 8 (28%) this was the first clinical presentation. Cardiac arrest had occurred in the first months of life in two patients. Seven patients had syncope (24%); 9 (31%) had palpitations with atrial fibrillation documented even in young subjects. At ECG, patients exhibited a QT interval < or = 320 ms and QTc < or = 340 ms. Fourteen patients received an implantable cardioverter-defibrillator (ICD) and 10 hydroquinidine prophylaxis. At a median follow-up of 23 months (range 9-49), one patient received an appropriate shock from the ICD; no patient on hydroquinidine had sudden death or syncope. SQTS carries a high risk of sudden death and may be a cause of death in early infancy. ICD is the first choice therapy; hydroquinidine may be proposed in children and in the patients who refuse the implant.
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                Author and article information

                Journal
                Journal ID (iso-abbrev): Cardiology
                Title: Cardiology
                Publisher: S. Karger AG
                ISSN (Electronic): 1421-9751
                ISSN (Print): 0008-6312
                Publication date (Electronic): 2014
                Volume: 128
                Issue: 3
                Affiliations
                [1 ] Department of Pediatrics (Cardiology), University of Kentucky, Lexington, Ky., USA.
                Article
                Publisher Item ID: 000360758
                DOI: 10.1159/000360758
                PubMed ID: 24818999
                SO-VID: a29c8f08-2e68-4d00-829a-ba068b30b9a7
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