scholarly journals NOS1AP SNPs related to sudden arrhythmic death syndrome

2019 ◽  
Vol 7 (1) ◽  
pp. 569-571
Author(s):  
Tamara Kleinbielen ◽  
María Pilar Hernández-Sierra ◽  
Endika Prieto-Fernández ◽  
Felix Olasagasti ◽  
Rubén Sevillano ◽  
...  
Author(s):  
Sabine Lemoine ◽  
Daniel Jost ◽  
Romain Kedzierewicz ◽  
Amandine Abriat ◽  
Stephane Travers ◽  
...  

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Pier D Lambiase ◽  
Juan C Kaski ◽  
Eileen Firman ◽  
Perry M Elliott ◽  
Akbar K Ahmed ◽  
...  

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.


Author(s):  
Francis J. Ha ◽  
Hui-Chen Han ◽  
Prashanthan Sanders ◽  
Kim Fendel ◽  
Andrew W. Teh ◽  
...  

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.


EP Europace ◽  
2016 ◽  
Vol 19 (8) ◽  
pp. 1385-1391 ◽  
Author(s):  
Anna McCorquodale ◽  
Rachel Poulton ◽  
Jennifer Hendry ◽  
Gabrielle Norrish ◽  
Ella Field ◽  
...  

2014 ◽  
Vol 37 (12) ◽  
pp. 1681-1685 ◽  
Author(s):  
VALENTINA GIUDICI ◽  
ADRIANI SPANAKI ◽  
JENNIFER HENDRY ◽  
SARAH MEAD-REGAN ◽  
ELLA FIELD ◽  
...  

EP Europace ◽  
2015 ◽  
Vol 18 (6) ◽  
pp. 888-896 ◽  
Author(s):  
Laurence M. Nunn ◽  
Luis R. Lopes ◽  
Petros Syrris ◽  
Cian Murphy ◽  
Vincent Plagnol ◽  
...  

2008 ◽  
Vol 29 (13) ◽  
pp. 1670-1680 ◽  
Author(s):  
Elijah R. Behr ◽  
Chrysoula Dalageorgou ◽  
Michael Christiansen ◽  
Petros Syrris ◽  
Sian Hughes ◽  
...  

2021 ◽  
Vol 15 (7) ◽  
pp. 324-328
Author(s):  
Chris Barber

The purpose of this series is to highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000. Many healthcare assistants and nurses will encounter some of these conditions, given the high number of them. This 49th article will explore three of these conditions: sudden arrhythmic death syndrome (SADS); sudden infant death syndrome (SIDS); and Hansen's disease.


Sign in / Sign up

Export Citation Format

Share Document