Sudden Arrhythmic Death Syndrome: Diagnostic Yield of Comprehensive Clinical Evaluation of Pediatric First-Degree Relatives

2014 ◽  
Vol 37 (12) ◽  
pp. 1681-1685 ◽  
Author(s):  
VALENTINA GIUDICI ◽  
ADRIANI SPANAKI ◽  
JENNIFER HENDRY ◽  
SARAH MEAD-REGAN ◽  
ELLA FIELD ◽  
...  
Keyword(s):  
Clinical Evaluation ◽  
Diagnostic Yield ◽  
Arrhythmic Death ◽  
First Degree Relatives ◽  
Sudden Arrhythmic Death Syndrome

Sudden arrhythmic death syndrome (SADS): Diagnostic yield of comprehensive clinical evaluation of paediatric first-degree relatives

2014 ◽  
Vol 11 (3) ◽  
Author(s):  
Jennifer Hendry ◽  
Valentina Giudici ◽  
A Spanaki ◽  
Sarah Mead-Reagan ◽  
Ella Field ◽  
...  
Keyword(s):  
Clinical Evaluation ◽  
Diagnostic Yield ◽  
Arrhythmic Death ◽  
First Degree Relatives ◽  
Sudden Arrhythmic Death Syndrome

1 Sudden Arrhythmic Death Syndrome (sads): Diagnostic Yield of Comprehensive Clinical Evaluation of Paediatric First-degree Relatives

Heart ◽  
2014 ◽  
Vol 100 (Suppl 3) ◽  
pp. A1.1-A1
Author(s):  
Adriani Spanaki ◽  
Valentina Giudici ◽  
Val Jennifer Hendry ◽  
Sarah Mead-Regan ◽  
Ella Field ◽  
...  
Keyword(s):  
Clinical Evaluation ◽  
Diagnostic Yield ◽  
Arrhythmic Death ◽  
First Degree Relatives ◽  
Sudden Arrhythmic Death Syndrome

Abstract 2928: Sudden Arrhythmic Death Syndrome-Diagnostic Yield Of Combined Clinical & Genetic Screening In A British Specialist Clinic

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Pier D Lambiase ◽  
Juan C Kaski ◽  
Eileen Firman ◽  
Perry M Elliott ◽  
Akbar K Ahmed ◽  
...  
Keyword(s):  
Heart Disease ◽  
Genetic Testing ◽  
Screening Programme ◽  
Diagnostic Yield ◽  
Challenge Test ◽  
Structural Heart Disease ◽  
Clinical Screening ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome ◽  
Index Cases

Introduction: Sudden arrhythmic death syndrome (SADS) arises through disorders of ion channel function or structural heart disease. It accounts for over 400 deaths in the UK per annum. To date there has been no comprehensive analysis of the diagnostic yield and efficacy of a family screening approach in SADS index cases where the post mortem heart is structurally normal after expert pathological review. Methods: 118 SADS families where the SADS victim died between 1 and 35 years of age were evaluated in a systematic family screening programme between 2003–2006. All SADS index cases had a structurally normal heart after expert review of all available tissue. All studied relatives underwent resting, signal averaged ECG, 24h Holter, exercise ECG with V0 2 max, transthoracic echocardiography and an ajmaline challenge test after initial clinical screening. Systematic mutation analysis was performed on the known long QT (LQT)genes including SCN5A & ryanodine receptor/ARVC genes when clinically suspected. Results: The most common modes of death were rest in 28%, sleep in 25% and exercise in 18%. Clinical screening identified an inherited electrical cause of SADS in 41 of the 118 families (35%)-20 Brugada, 18 LQT Syndrome, 3 Catecholiminergic Polymorphic Ventricular Tachycardia (CPVT). Structural heart disease was identified in 5 ARVC & 2 DCM families. 26 ICDs have been implanted in affected family members-4 LQTS, 7 Brugada, 2 CPVT, 2 ARVC, 2 DCM and 9 on clinical grounds without a definitive diagnosis. The ECG (37%) and ajmaline challenge test (49%) had the highest diagnostic yield in families with a positive diagnosis. To date, genetic testing has increased the diagnostic yield by 5% (6/118 families-2 KCNQ1, 1 HERG, 2 SCN5A, 1 ARVC ), confirming a clinical diagnosis in 6.6%–3 KCNQ1, 3 SCN5A, 1 HERG, 1 KCNH2. Conclusions: Systematic clinical screening in relatives of SADS victims has a diagnostic yield of 35% increasing to 40% with genetic testing. Electrical causes of SADS predominate in these families. These findings demonstrate that a systematic clinical screening programme in SADS families is both achievable and effective. The full impact of gene testing (including RyR mutations) upon diagnostic yield is awaited.

scholarly journals Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

EP Europace ◽  
2015 ◽  
Vol 18 (6) ◽  
pp. 888-896 ◽  
Author(s):  
Laurence M. Nunn ◽  
Luis R. Lopes ◽  
Petros Syrris ◽  
Cian Murphy ◽  
Vincent Plagnol ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Molecular Autopsy ◽  
Targeted Exome Sequencing ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome

140 The diagnostic yield of brugada syndrome in families affected by sudden arrhythmic death syndrome; the impact of higher intercostal V1 and V2 leads

Heart ◽  
2010 ◽  
Vol 96 (Suppl 1) ◽  
pp. A80.3-A80
Author(s):  
M Papadakis ◽  
G Baines ◽  
A Kouloubinis ◽  
A O'Sullivan ◽  
N van Niekerk ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Diagnostic Yield ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome ◽  
The Impact

Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome

The Lancet ◽  
2003 ◽  
Vol 362 (9394) ◽  
pp. 1457-1459 ◽  
Author(s):  
E Behr ◽  
DA Wood ◽  
M Wright ◽  
P Syrris ◽  
MN Sheppard ◽  
...  
Keyword(s):  
Arrhythmic Death ◽  
First Degree Relatives ◽  
Sudden Arrhythmic Death Syndrome

Re: Krexi D, et al. “Cardiovascular causes of maternal sudden death. Sudden Arrhythmic Death Syndrome is leading cause in UK.”

2017 ◽  
Vol 217 ◽  
pp. 176-177
Author(s):  
Sabine Lemoine ◽  
Daniel Jost ◽  
Romain Kedzierewicz ◽  
Amandine Abriat ◽  
Stephane Travers ◽  
...  
Keyword(s):  
Sudden Death ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome

scholarly journals Sudden Cardiac Death in the Young

2020 ◽  
Vol 13 (10) ◽  
Author(s):  
Francis J. Ha ◽  
Hui-Chen Han ◽  
Prashanthan Sanders ◽  
Kim Fendel ◽  
Andrew W. Teh ◽  
...  
Keyword(s):  
Risk Factors ◽  
Coronary Artery Disease ◽  
Body Mass Index ◽  
Coronary Artery ◽  
Sudden Cardiac Death ◽  
Odds Ratio ◽  
Cardiac Death ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome ◽  
Artery Disease

Background: Sudden cardiac death (SCD) in the young is devastating. Contemporary incidence remains unclear with few recent nationwide studies and limited data addressing risk factors for causes. We aimed to determine incidence, trends, causes, and risk factors for SCD in the young. Methods and Results: The National Coronial Information System registry was reviewed for SCD in people aged 1 to 35 years from 2000 to 2016 in Australia. Subjects were identified by the International Classification of Diseases , Tenth Revision code relating to circulatory system diseases (I00–I99) from coronial reports. Baseline demographics, circumstances, and cause of SCD were obtained from coronial and police reports, alongside autopsy and toxicology analyses where available. During the study period, 2006 cases were identified (median age, 28±7 years; men, 75%; mean body mass index, 29±8 kg/m 2 ). Annual incidence ranged from 0.91 to 1.48 per 100 000 age-specific person-years, which was the lowest in 2013 to 2015 compared with previous 3-year intervals on Poisson regression model ( P =0.001). SCD incidence was higher in nonmetropolitan versus metropolitan areas (0.99 versus 0.53 per 100 000 person-years; P <0.001). The most common cause of SCD was coronary artery disease (40%), followed by sudden arrhythmic death syndrome (14%). Incidence of coronary artery disease–related SCD decreased from 2001–2003 to 2013–2015 ( P <0.001). Proportion of SCD related to sudden arrhythmic death syndrome increased during the study period ( P =0.02) although overall incidence was stable ( P =0.22). Residential remoteness was associated with coronary artery disease–related SCD (odds ratio, 1.44 [95% CI, 1.24–1.67]; P <0.001). For every 1-unit increase, body mass index was associated with increased likelihood of SCD from cardiomegaly (odds ratio, 1.08 [95% CI, 1.05–1.11]; P <0.001) and dilated cardiomyopathy (odds ratio, 1.04 [95% CI, 1.01–1.06]; P =0.005). Conclusions: Incidence of SCD in the young and specifically coronary artery disease–related SCD has declined in recent years. Proportion of SCD related to sudden arrhythmic death syndrome increased over the study period. Geographic remoteness and obesity are risk factors for specific causes of SCD in the young.

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