European Heart Journal

To those of us involved in clinical research it seldom happens to begin working on a rather obscure disease, still largely unexplored, and to follow its ripening into a medical entity of large interest to clinicians and basic scientists alike, and moreover to do so for exactly 50?years. This is what has been my privilege in the relentless pursuit of the intriguing disease known as the long QT syndrome (LQTS). This essay begins with the encounter with my first patient affected by LQTS when just a handful of cardiologists had seen similar cases and continues with the series of efforts, some sound some amateurish, which eventually led—together with many brilliant partners and associates—to describe and understand the natural history of the disease and the most effective therapies. It then touches on how our International Registry for LQTS, with its well-documented family trees, constituted the necessary springboard for the major genetic discoveries of the 1990s. From the explosion of genetic data, my own interest focused first on the intriguing genotype–phenotype correlation and then on ‘modifier genes’, in the attempt of understanding why family members with the same disease-causing mutation could have an opposite clinical history. And from there on to iPS-derived cardiomyocytes, used to unravelling the specific mechanisms of action of modifier genes and to exploring novel therapeutic strategies. This long, and highly rewarding, journey continues because the fascination and the attraction of the unknown are irresistible.

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Brugada syndrome and reduced right ventricular outflow tract conduction reserve: a final common pathway?

Elijah R Behr, Yael Ben-Haim, Michael J Ackerman, Andrew D Krahn, Arthur A M Wilde

doi : 10.1093/eurheartj/ehaa1051

European Heart Journal, Volume 42, Issue 11, 14 March 2021, Pages 1073–1081

Brugada syndrome (BrS) was first described as a primary electrical disorder predisposing to the risk of sudden cardiac death and characterized by right precordial lead ST elevation. Early description of right ventricular structural abnormalities and of right ventricular outflow tract (RVOT) conduction delay in BrS patients set the stage for the current controversy over the pathophysiology underlying the syndrome: channelopathy or cardiomyopathy; repolarization or depolarization. This review examines the current understanding of the BrS substrate, its genetic and non-genetic basis, theories of pathophysiology, and the clinical implications thereof. We propose that the final common pathway for BrS could be viewed as a disease of ‘reduced RVOT conduction reserve’.

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Brugada syndrome genetics is associated with phenotype severity

Giuseppe Ciconte, Michelle M Monasky, Vincenzo Santinelli, Emanuele Micaglio, Gabriele Vicedomini

doi : 10.1093/eurheartj/ehaa942

European Heart Journal, Volume 42, Issue 11, 14 March 2021, Pages 1082–1090

Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype–phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype–phenotype correlation in BrS.

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Illuminating the path from genetics to clinical outcome in Brugada syndrome

Pieter G Postema, Roddy Walsh, Connie R Bezzina

doi : 10.1093/eurheartj/ehaa994

European Heart Journal, Volume 42, Issue 11, 14 March 2021, Pages 1091–1093

The presence of rare pathogenic SCN5A variants is associated with more severe phenotypes in Brugada syndrome patients, which may be at least partly explained by greater epicardial arrhythmogenic substrates in these patients.

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Cardiac arrest in COVID-19: characteristics and outcomes of in- and out-of-hospital cardiac arrest. A report from the Swedish Registry for Cardiopulmonary Resuscitation

Pedram Sultanian, Peter Lundgren, Anneli Str?ms?e, Solveig Aune, G?ran Bergstr?m

doi : 10.1093/eurheartj/ehaa1067

European Heart Journal, Volume 42, Issue 11, 14 March 2021, Pages 1094–1106

To study the characteristics and outcome among cardiac arrest cases with COVID-19 and differences between the pre-pandemic and the pandemic period in out-of-hospital cardiac arrest (OHCA) and in-hospital cardiac arrest (IHCA).

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Cardiac arrest occurrence during successive waves of the COVID-19 pandemic: direct and indirect consequences

Eloi Marijon, Nicole Karam, Xavier Jouven

doi : 10.1093/eurheartj/ehab051

European Heart Journal, Volume 42, Issue 11, 14 March 2021, Pages 1107–1109

Greater Paris area: weekly numbers of out-of-hospital cardiac arrest in 2020, compared with previous years (2012–2019), as well as the number of hospital admissions for COVID-19.

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