Successful risk stratification of a patient with ventricular preexcitation by improved transesophageal electrophysiological study

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

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Clinical characteristics and long-term clinical course of patients with Brugada syndrome without previous cardiac arrest: a multiparametric risk stratification approach

EP Europace ◽

10.1093/europace/euz288 ◽

2019 ◽

Cited By ~ 3

Author(s):

Konstantinos P Letsas ◽

George Bazoukis ◽

Michael Efremidis ◽

Stamatis Georgopoulos ◽

Panagiotis Korantzopoulos ◽

...

Keyword(s):

Risk Factors ◽

Risk Stratification ◽

Brugada Syndrome ◽

Clinical Characteristics ◽

Clinical Course ◽

Electrophysiological Study ◽

Rank Test ◽

History Of ◽

Event Rates

Abstract Aims Risk stratification in Brugada syndrome (BrS) still represents an unsettled issue. In this multicentre study, we aimed to evaluate the clinical characteristics and the long-term clinical course of patients with BrS. Methods and results A total of 111 consecutive patients (86 males; aged 45.3 ± 13.3 years) diagnosed with BrS were included and followed-up in a prospective fashion. Thirty-seven patients (33.3%) were symptomatic at enrolment (arrhythmic syncope). An electrophysiological study (EPS) was performed in 59 patients (53.2%), and ventricular arrhythmias were induced in 32 (54.2%). A cardioverter defibrillator was implanted in 34 cases (30.6%). During a mean follow-up period of 4.6 ± 3.5 years, appropriate device therapies occurred in seven patients. Event-free survival analysis (log-rank test) showed that spontaneous type-1 electrocardiogram pattern (P = 0.008), symptoms at presentation (syncope) (P = 0.012), family history of sudden cardiac death (P < 0.001), positive EPS (P = 0.024), fragmented QRS (P = 0.004), and QRS duration in lead V2 > 113 ms (P < 0.001) are predictors of future arrhythmic events. Event rates were 0%, 4%, and 60% among patients with 0–1 risk factor, 2–3 risk factors, and 4–5 risk factors, respectively (P < 0.001). Current multiparametric score models exhibit an excellent negative predictive value and perform well in risk stratification of BrS patients. Conclusions Multiparametric models including common risk factors appear to provide better risk stratification of BrS patients than single factors alone.

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649Reappraisal of the value of electrophysiological study in sudden cardiac death risk stratification in hypertrophic cardiomyopathy

EP Europace ◽

10.1093/ehjci/eux145 ◽

2017 ◽

Vol 19 (suppl_3) ◽

pp. iii128-iii128

Author(s):

C-K Antoniou ◽

K. Gatzoulis ◽

S. Georgopoulos ◽

A. Anastasakis ◽

A. Theopistou ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Sudden Cardiac Death ◽

Risk Stratification ◽

Cardiac Death ◽

Electrophysiological Study ◽

Death Risk ◽

Sudden Cardiac Death Risk

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Endocavitary electrophysiological study by percutaneous antecubital vein and without X-ray for risk stratification of asymptomatic ventricular pre-excitation in young athletes

IJC Heart & Vasculature ◽

10.1016/j.ijcha.2021.100879 ◽

2021 ◽

Vol 36 ◽

pp. 100879

Author(s):

Massimiliano Maines ◽

Alessandro Zorzi ◽

Francesco Peruzza ◽

Domenico Catanzariti ◽

Paolo Moggio ◽

...

Keyword(s):

Risk Stratification ◽

Electrophysiological Study ◽

Young Athletes ◽

X Ray ◽

Antecubital Vein

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Brugada Syndrome: Current Practices in Diagnosis, Prognosis, and Treatment

International Cardiovascular Forum Journal ◽

10.17987/icfj.v9i0.407 ◽

2017 ◽

Vol 9 ◽

Author(s):

Muhammad Ali

Keyword(s):

Risk Stratification ◽

Brugada Syndrome ◽

Electrophysiological Study ◽

Loss Of Function ◽

Bundle Branch Block ◽

Effective Measure ◽

Cardiac Sodium Channel ◽

Class Iib ◽

Current Practices

Brugada syndrome (BrS) is a hereditable syndrome, first reported in 1992, characterized by right bundle branch block and an uncommon form of ST-T wave elevation in the V1 and V2 leads and associated with risk of sudden cardiac death (SCD) arising from polymorphic ventricular tachyarrhythmias. BrS is an autosomal dominant inherited condition; however, more than 50% of BrS cases may be sporadic. Approximately 20% to 25% of BrS cases originate from loss of function mutations in the SCN5A cardiac sodium channel.The diagnosis of BrS is mainly based on electrocardiogram. SCD due to ventricular fibrillation can be the first clinical presentation of BrS. The insertion of an implantable cardioverter-defibrillator remains the only approved effective measure to prevent SCD in BrS patients. Risk stratification in BrS is still challenging. Because the role of electrophysiological study (EPS) for estimating prognosis in BrS patients has been controversial, but the expert consensus published in 2013 (Priori et al, 2013) considered the performance of EPS, class IIb. Future randomized studies focused on risk stratification and the value of radiofrequency ablation in BrS patients are needed.This review provides a succinct general overview of BrS focusing on current practices in diagnosis, prognosis, and treatment.

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P2581Is electrophysiological study useful in risk stratification of patients with biopsy-proved inflammatory cardiomyopathy?

European Heart Journal ◽

10.1093/eurheartj/ehx502.p2581 ◽

2017 ◽

Vol 38 (suppl_1) ◽

Author(s):

G. Peretto ◽

S. Sala ◽

P. Della Bella

Keyword(s):

Risk Stratification ◽

Electrophysiological Study ◽

Inflammatory Cardiomyopathy

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Sudden cardiac death risk stratification in ventricular preexcitation: A tale of two eras

Heart Rhythm ◽

10.1016/j.hrthm.2020.07.002 ◽

2020 ◽

Vol 17 (10) ◽

pp. 1738-1739

Author(s):

Eric N. Prystowsky ◽

Leonard Steinberg

Keyword(s):

Sudden Cardiac Death ◽

Risk Stratification ◽

Cardiac Death ◽

Death Risk ◽

Sudden Cardiac Death Risk ◽

Ventricular Preexcitation

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P506Brugada Syndrome: is the addition of the electrocardiographic risk markers the clue?

EP Europace ◽

10.1093/europace/euaa162.144 ◽

2020 ◽

Vol 22 (Supplement_1) ◽

Author(s):

A Tronconi ◽

G Carnero ◽

M Mysuta ◽

A Bozza ◽

M Peltzer ◽

...

Keyword(s):

Risk Stratification ◽

Electrophysiological Study ◽

First Grade ◽

Time Interval ◽

Risk Marker ◽

Risk Markers ◽

T Wave ◽

Asymptomatic Patients ◽

Significant Difference

Abstract Background Risk stratification in Brugada Syndrome (BS) remains a clinical challenge. Several electrocardiografic (ECG) risk markers had been described, as a spontaneous type 1 Brugada pattern (ST1B), maximal time interval between the peak and the end of the t wave in precordial leads (Tpe Max), the presence of an S Wave on DI, a PR interval (PRi) ≥ 200ms and fragmented QRS (f-QRS). Purpose Evaluate the association of ECG risk markers with sudden cardiac death (SCD) or appropriate shocks (A-Sh) by implantable cardioverter defibrillator (ICD) in patients (p) with BS. Methods From a registry of 97 p with BS with a median follow up of 2.3 years (Q1 0.7-Q3 7.8), 12 lead ECG were recorded in every p. QT peak interval (QTp) was measured between the QRS onset and the peak of the T wave. Tpe was calculated between the difference of QT and QTp in precordial leads (V1 to V6). TpeMax was defined as the most prolonged Tpe. If an S-DI was present, duration and amplitude was measured. PRi was measured on DII. Baseline characteristics: Age 44 ± 13 years, male 74 (76%), secondary prevention 2 (3%), malignant syncope 10 (10%), inducible electrophysiology study 22/43 (51%), SCD on first grade family < 35 years 12 (12%) and ICD 34 (35%). A-Sh and SCD were compared among p with ST1B vs no ST1B, TpeMax≥100 vs <100ms, S-DI ≥0.4 vs <0.4ms, S-D ≥0.1 vs <0.1mV, PRi≥200 vs <200ms and presence of f-QRS ≥ 2 spike ≥ 2 leads. Variables that were associated with A-Sh or SCD were combined. For variables with significant difference sensibility (Sen) and specificity (Spe) was calculated. Results During follow up 6 p presented A-Sh and no p SCD. Results are described in the Table. Conclusion In our study population, there was a significant higher incidence of A-Sh in p with ST1B, Tpe Max ≥ 100ms and S-DI ≥ 0.1mV. We found that the presence of one ECG risk marker had a high sensibility to predict A-Sh. The presence of the 3 ECG risk markers highly increased specificity to predict A-Sh. Further trials should be carried out to asses if ECG risk markers would allow us to differentiate which asymptomatic patients could benefit from electrophysiological study for risk stratification (high sensibility - One ECG Risk marker) or would benefit from ICD implantation (high specificity - 3 ECG Risk markers). Abstract Figure.

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Prevention of sudden cardiac death in ischaemic cardiomyopathy

ESC CardioMed ◽

10.1093/med/9780198784906.003.0552 ◽

2018 ◽

pp. 2333-2337

Author(s):

Jorge Romero ◽

Andrea Natale ◽

Ricardo Avendano ◽

Mario Garcia ◽

Luigi Di Biase

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Primary Prevention ◽

Sudden Cardiac Death ◽

Risk Stratification ◽

Cardiac Death ◽

Electrophysiological Study ◽

Total Mortality ◽

Ischaemic Cardiomyopathy ◽

Cmr Imaging

Sudden cardiac death (SCD) is a major health problem in both the United States and worldwide. There is considerable controversy regarding the optimal time after acute myocardial infarction for risk stratification as well as the ideal time to place an implantable cardioverter defibrillator for primary prevention for SCD. Several parameters have been considered and tested for risk stratification of SCD after acute myocardial infarction. However, the only criterion that is currently being implemented is the left ventricular ejection fraction (LVEF). There are different imaging methods to measure LVEF, including echocardiography, cardiovascular magnetic resonance (CMR) imaging, nuclear scintigraphy, and angiography. When compared, these methods have shown modest correlation among them with up to 10% differences in LVEF and wide standard deviations (average 10%), which raises questions about their reliability to make decisions about primary prevention strategies for these patients. Moreover, LVEF assessment after acute myocardial infarction may be significantly affected by transient myocardial stunning and patients with a LVEF greater than 35% are not exempt from ventricular arrhythmias. Despite previous studies showing a considerably higher reduction in cardiac and total mortality when electrophysiological study is performed, current guidelines for prevention of SCD do not recommend electrophysiological study very strongly. CMR imaging has gained popularity for risk stratification of SCD. Delayed gadolinium enhancement has been proven to be useful in the identification of myocardial scar due to acute or chronic myocardial infarction. In the authors’ opinion, electrophysiological study and CMR imaging and probably strain echocardiography as well as cardiac iodine-123 metaiodobenzylguanidine will eventually play more important roles in risk stratification of patients with ischaemic cardiomyopathy based on the data published to date.

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