Idiopathic Short QT Interval:A New Clinical Syndrome?

Gussak, Ihor; Brugada, Pedro; Brugada, Josép; Wright, R. Scott; Kopecky, Stephen L.; Chaitman, Bernard R.; Bjerregaard, Preben

doi:10.1159/000047299

Cited by 605 publications

(348 citation statements)

References 10 publications

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“…The short QT syndrome (SQTS), first described in 2000 [108], was defined by an abnormally shortened QT intervals and a propensity for cardiac arrest (CA) [109,110]. SQTS has been associated with the gain-of-function mutations in 3 distinct potassium channels, KCNH2, KCNQ1 and KCNJ2 , which cause SQT1, SQT2 and SQT3, respectively [111–114].…”

Section: Short Qt Syndromesmentioning

confidence: 99%

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia

et al. 2018

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The voltage-gated L-type calcium channel (LTCC) is essential for multiple cellular processes. In the heart, calcium influx through LTCC plays an important role in cardiac electrical excitation. Mutations in LTCC genes, including CACNA1C, CACNA1D, CACNB2 and CACNA2D, will induce the dysfunctions of calcium channels, which result in the abnormal excitations of cardiomyocytes, and finally lead to cardiac arrhythmias. Nevertheless, the newly found mutations in LTCC and their functions are continuously being elucidated. This review summarizes recent findings on the mutations of LTCC, which are associated with long QT syndromes, Timothy syndromes, Brugada syndromes, short QT syndromes, and some other cardiac arrhythmias. Indeed, we describe the gain/loss-of-functions of these mutations in LTCC, which can give an explanation for the phenotypes of cardiac arrhythmias. Moreover, we present several challenges in the field at present, and propose some diagnostic or therapeutic approaches to these mutation-associated cardiac diseases in the future.

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Section: Short Qt Syndromesmentioning

confidence: 99%

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia

et al. 2018

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“…The mirror image disorder of LQTS-the congenital SQTS is a relatively young disorder added to the growing list of inherited channelopathies in 2000 (Gussak et al, 2000). SQTS is characterized by abnormally short QT interval on ECG(<360 ms) in association with high incidence of sudden cardiac death (Gussak et al, 2000(Gussak et al, , 2003.…”

Section: The Short Qt Syndromementioning

confidence: 99%

“…The Short QT syndrome (SQTS), first described in 2000 by Gussak et al (2000), is understandably less well studied. This notwithstanding, mutations in five different genes encoding a variety of ion channels have been identified.…”

Section: Introductionmentioning

confidence: 99%

Pharmacological approach to the treatment of long and short QT syndromes

Patel

Antzelevitch

2008

Pharmacology & Therapeutics

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Inherited channelopathies have received increasing attention in recent years. The past decade has witnessed impressive progress in our understanding of the molecular and cellular basis of arrhythmogenesis associated with inherited channelopathies. An imbalance in ionic forces induced by these channelopathies affects the duration of ventricular repolarization and amplifies the intrinsic electrical heterogeneity of the myocardium, creating an arrhythmogenic milieu. Today, many of the channelopathies have been linked to mutations in specific genes encoding either components of ion channels or membrane or regulatory proteins. Many of the channelopathies are genetically heterogeneous with a variable degree of expression of the disease. Defining the molecular basis of channelopathies can have a profound impact on patient management, particularly in cases in which genotype-specific pharmacotherapy is available.The long QT syndrome (LQTS) is one of the first identified and most studied channelopathies where abnormal prolongation of ventricular repolarization predisposes an individual to life threatening ventricular arrhythmia called Torsade de Pointes. On the other hand of the spectrum, molecular defects favoring premature repolarization lead to Short QT syndrome (SQTS), a recently described inherited channelopathy. Both of these channelopathies are associated with a high risk of sudden cardiac death due to malignant ventricular arrhythmia. Whereas pharmacological therapy is first line treatment for LQTS, defibrillators are considered as primary treatment for SQTS. This review provides a comprehensive review of the molecular genetics, clinical features, genotype-phenotype correlations and genotype-specific approach to pharmacotherapy of these two mirror-image channelopathies, SQTS and LQTS.

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“…Short QT syndrome (SQTS) is an inherited channelopathy initially described in 20001 associating a short QT interval to ventricular and atrial arrhythmias and carrying a risk of sudden cardiac death (SD) 2, 3. It is a very exceptional syndrome with only some tens of cases reported in the literature so far 4, 5…”

Section: Introductionmentioning

confidence: 99%

“…A diagnostic value of 300 ms,1, 7 then of 320 ms8 for the QT interval and of 340 ms for the corrected QT (QTc)9 had been initially proposed, although some symptomatic patients with SQTS may present with longer QTc interval 4, 10, 11, 12. A diagnostic score was proposed in 2011, including QTc value, and clinical and family history, demonstrating excellent sensitivity,4 although this score has not gained wide acceptance because of some limitations 13, 14.…”

Section: Introductionmentioning

confidence: 99%

Shortening of the Short Refractory Periods in Short QT Syndrome

Rollin

Gandjbakhch

Giustetto

et al. 2017

JAHA

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BackgroundDiagnosis of short QT syndrome (SQTS) remains difficult in case of borderline QT values as often found in normal populations. Whether some shortening of refractory periods (RP) may help in differentiating SQTS from normal subjects is unknown.Methods and ResultsAtrial and right ventricular RP at the apex and right ventricular outflow tract as determined during standard electrophysiological study were compared between 16 SQTS patients (QTc 324±24 ms) and 15 controls with similar clinical characteristics (QTc 417±32 ms). Atrial RP were significantly shorter in SQTS compared with controls at 600‐ and 500‐ms basic cycle lengths. Baseline ventricular RP were significantly shorter in SQTS patients than in controls, both at the apex and right ventricular outflow tract and for any cycle length. Differences remained significant for RP of any subsequent extrastimulus at any cycle length and any pacing site. A cut‐off value of baseline RP <200 ms at the right ventricular outflow tract either at 600‐ or 500‐ms cycle length had a sensitivity of 86% and a specificity of 100% for the diagnosis of SQTS.ConclusionsPatients with SQTS have shorter ventricular RP than controls, both at baseline during various cycle lengths and after premature extrastimuli. A cut‐off value of 200 ms at the right ventricular outflow tract during 600‐ and 500‐ms basic cycle length may help in detecting true SQTS from normal subjects with borderline QT values.

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Idiopathic Short QT Interval:A New Clinical Syndrome?

Cited by 605 publications

References 10 publications

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia

Pharmacological approach to the treatment of long and short QT syndromes

Shortening of the Short Refractory Periods in Short QT Syndrome

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