HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

Priori, Silvia G.; Wilde, Arthur A.M.; Horie, Minoru; Cho, Yongkeun; Behr, Elijah R.; Berul, Charles I.; Blom, Nico A.; Brugada, Josep; Chiang, Chern En; Huikuri, Heikki V.; Kannankeril, Prince J.; Krahn, Andrew D.; Leenhardt, Antoine; Moss, Arthur J.; Schwartz, Peter J.; Shimizu, Wataru; Tomaselli, Gordon F.; Tracy, Cynthia M.

doi:10.1016/j.hrthm.2013.05.014

Cited by 1,685 publications

(1,896 citation statements)

References 256 publications

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“…Brugada syndrome (BS) is an inherited arrhythmic syndrome generally lacking structural abnormalities 1, 2. BS is diagnosed in patients with a coved‐type ST‐segment elevation occurring either spontaneously or after a provocative drug test with the intravenous administration of Class I antiarrhythmic drugs.…”

Section: Introductionmentioning

confidence: 99%

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome

Aizawa

Fujisawa

Katsumata

et al. 2018

JAHA

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BackgroundBrugada syndrome (BS) is known to be 9 times more prevalent in males than females. However, little is known about the development of sick sinus syndrome in female members with familial BS.Methods and ResultsFamilial BS patients and family members, both from our institutions and collaborating sites that specialize in clinical care of BS, participated in this study. We collected information on their clinical and genetic background, along with the inheritance patterns of BS. Detailed information on each case with familial BS is described. A total of 7 families, including 25 BS patients (12 females and 13 males), were included. Seven were probands and 18 were family members. Ten out of the 12 female patients and none of the 13 male patients developed sick sinus syndrome. Sudden death or spontaneous ventricular fibrillation occurred in 7 out of 13 male patients and 2 out of 12 female patients.ConclusionsFamilial BS existed in which female patients developed sick sinus syndrome but male patients did not. Some of those female patients with sick sinus syndrome had unrecognized BS. Information should be collected not only regarding a family history of sudden death or BS, but also whether a pacemaker was implanted in female members.

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Section: Introductionmentioning

confidence: 99%

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome

Aizawa

Fujisawa

Katsumata

et al. 2018

JAHA

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“…Diagnosis of SQTS was made according to the current guidelines2, 3: each patient had a history of QTc interval shorter than 340 or <360 ms in association with resuscitated SD, and/or a family history of SD <40 years old and/or of familial SQTS.…”

Section: Methodsmentioning

confidence: 99%

“…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 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. SQTS should be currently diagnosed in the presence of a QTc ≤330 to 360 ms according to recent guidelines 2, 3…”

Section: Introductionmentioning

confidence: 99%

“…Epidemiological studies of control populations showed that a QT interval <320 to 340 ms was not associated with a higher risk of SD over very long‐term follow‐up 15, 16. That is why additional clinical parameters are currently needed for diagnosing SQTS 2, 3…”

Section: Introductionmentioning

confidence: 99%

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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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A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome

Ni,

Dadon,

Ormerod

et al. 2024

JAMA

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ImportanceSudden death and cardiac arrest frequently occur without explanation, even after a thorough clinical evaluation. Calcium release deficiency syndrome (CRDS), a life-threatening genetic arrhythmia syndrome, is undetectable with standard testing and leads to unexplained cardiac arrest.ObjectiveTo explore the cardiac repolarization response on an electrocardiogram after brief tachycardia and a pause as a clinical diagnostic test for CRDS.Design, Setting, and ParticipantsAn international, multicenter, case-control study including individual cases of CRDS, 3 patient control groups (individuals with suspected supraventricular tachycardia; survivors of unexplained cardiac arrest [UCA]; and individuals with genotype-positive catecholaminergic polymorphic ventricular tachycardia [CPVT]), and genetic mouse models (CRDS, wild type, and CPVT were used to define the cellular mechanism) conducted at 10 centers in 7 countries. Patient tracings were recorded between June 2005 and December 2023, and the analyses were performed from April 2023 to December 2023.InterventionBrief tachycardia and a subsequent pause (either spontaneous or mediated through cardiac pacing).Main Outcomes and MeasuresChange in QT interval and change in T-wave amplitude (defined as the difference between their absolute values on the postpause sinus beat and the last beat prior to tachycardia).ResultsAmong 10 case patients with CRDS, 45 control patients with suspected supraventricular tachycardia, 10 control patients who experienced UCA, and 3 control patients with genotype-positive CPVT, the median change in T-wave amplitude on the postpause sinus beat (after brief ventricular tachycardia at ≥150 beats/min) was higher in patients with CRDS (P &lt; .001). The smallest change in T-wave amplitude was 0.250 mV for a CRDS case patient compared with the largest change in T-wave amplitude of 0.160 mV for a control patient, indicating 100% discrimination. Although the median change in QT interval was longer in CRDS cases (P = .002), an overlap between the cases and controls was present. The genetic mouse models recapitulated the findings observed in humans and suggested the repolarization response was secondary to a pathologically large systolic release of calcium from the sarcoplasmic reticulum.Conclusions and RelevanceThere is a unique repolarization response on an electrocardiogram after provocation with brief tachycardia and a subsequent pause in CRDS cases and mouse models, which is absent from the controls. If these findings are confirmed in larger studies, this easy to perform maneuver may serve as an effective clinical diagnostic test for CRDS and become an important part of the evaluation of cardiac arrest.

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HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

Abstract: Class III 7. ICD as a standalone therapy is not indicated in an asymptomatic patient with a diagnosis of CPVT. 8. Programmed electrical stimulation is not indicated in CPVT patients.

Cited by 1,685 publications

References 256 publications

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome

Shortening of the Short Refractory Periods in Short QT Syndrome

A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome

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