scholarly journals Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Heart Rhythm ◽  
2018 ◽  
Vol 15 (7) ◽  
pp. 1051-1057 ◽  
Author(s):  
Belinda Gray ◽  
Can Hasdemir ◽  
Jodie Ingles ◽  
Takeshi Aiba ◽  
Naomasa Makita ◽  
...  
2020 ◽  
Vol 30 (3) ◽  
pp. 480-491
Author(s):  
Joseane Elza Tonussi Mendes ◽  
Kjell Nikus ◽  
Raimundo Barbosa-Barros ◽  
Andrés Ricardo Pérez-Riera

Backgroung: The eponymous Brugada Syndrome (BrS) in honor of its discovery as an independent entity by the Spanish/ Catalan Brugada brothers, Pedro and Josep, has deserved numerous denominations derived mainly from the clinical genotype/phenotype correlation. The purpose of this manuscript is to present and analyze the nomenclatures that this intriguing and challenging syndrome has received over the past 28 years. We also compared the main features between cases from the first report of the Brugada brothers and an article by Martini et al. The nomenclatures used by these authors are closely linked to the BrS, but the cases (except one) presented in the article by Martini et al do not present the type 1 Brugada ECG pattern, which is mandatory for the diagnosis of BrS.


2017 ◽  
Vol 38 (suppl_1) ◽  
Author(s):  
E. Papatheodorou ◽  
M. Papadakis ◽  
B. Ensam ◽  
G. Finocchiaro ◽  
G. Mellor ◽  
...  

Heart ◽  
2010 ◽  
Vol 96 (Suppl 1) ◽  
pp. A80.3-A80
Author(s):  
M Papadakis ◽  
G Baines ◽  
A Kouloubinis ◽  
A O'Sullivan ◽  
N van Niekerk ◽  
...  

2019 ◽  
Vol 165 (5) ◽  
pp. 377-379
Author(s):  
Leanne Jane Eveson ◽  
A T Cox ◽  
H Dhutia ◽  
B Ensem ◽  
E Behr ◽  
...  

A 25-year-old infantry soldier, who was previously fit and well, had a cardiac arrest while undertaking an advanced fitness test. Despite early cardiopulmonary resuscitation by colleagues and the emergency services, he was later pronounced dead. A postmortem performed by an expert pathologist and a toxicology screen were normal and the death was attributed to sudden arrhythmic death syndrome (SADS). Screening of his family in our Inherited Cardiac Conditions clinic identified Brugada syndrome (BrS) in two first-degree relatives. This case generates discussion on sudden cardiac death, family screening in SADS, BrS and the limitations of recruit screening with an ECG.


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