Short QT syndrome: clinical findings and diagnostic-therapeutic implications

Giustetto, Carla; Monte, Fernando Di; Wolpert, Christian; Borggrefe, Martin; Schimpf, Rainer; Sbragia, Pascal; Leone, Gianpiero; Maury, Philippe; Anttonen, Olli; Haı̈ssaguerre, Michel; Gaïta, Fiorenzo

doi:10.1093/eurheartj/ehl185

Cited by 304 publications

(223 citation statements)

References 14 publications

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“…Polymorphic ventricular tachycardia (pVT) is readily inducible in a large fraction of affected individuals. 3,10 Due to the unavailability of I Kr , I Ks or I K1 agonists, the only previously developed models of short QT syndrome were ones in which the activator of the ATP-sensitive potassium current (I K-ATP ), pinacidil, was used to augment outward current in canine left ventricular wedge preparations 11 or Langendorff-perfused rabbit hearts. 12 The present study involves the development and characterization of a specific model of SQT1 made possible by the recent availability of a selective I Kr agonist, PD-118057.…”

Section: Introductionmentioning

confidence: 99%

Cellular basis for arrhythmogenesis in an experimental model of the SQT1 form of the short QT syndrome

Patel

Antzelevitch

2008

Heart Rhythm

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Section: Introductionmentioning

confidence: 99%

Cellular basis for arrhythmogenesis in an experimental model of the SQT1 form of the short QT syndrome

Patel

Antzelevitch

2008

Heart Rhythm

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“…In the largest available case series of SQTS, Giustetto et al (2006) reported clinical presentation of 29 patients with SQTS. Approximately 25% of patients had a mutation in KCNH2 (SQT1) and no mutation was found in rest of the patients.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…ECG in SQTS is characterized by abnormally short QT interval, commonly<360 ms with a range of 220 to 360 ms Giustetto et al, 2006;Gussak et al, 2000). Another common finding on the ECG of SQT1-3 patients is tall, symmetrical or asymmetrical peaked T wave in precordial leads.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Clinically, episodes of ventricular fibrillation have been reported at rest, during sleep, during intensive exercises, following a loud noise and even during daily activities (Giustetto et al, 2006). It is suggested that likelihood of arrhythmia is higher at rest as TDR which plays a key role in arrhythmogenesis in SQTS, is more pronounced at lower heart rates.…”

Section: Clinical Presentationmentioning

confidence: 99%

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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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“…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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Short QT syndrome: clinical findings and diagnostic-therapeutic implications

Abstract: 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.

Cited by 304 publications

References 14 publications

Cellular basis for arrhythmogenesis in an experimental model of the SQT1 form of the short QT syndrome

Cellular basis for arrhythmogenesis in an experimental model of the SQT1 form of the short QT syndrome

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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