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JOURNAL ARTICLE
Denis Abramochkin, Bowen Li, Han Zhang, Ekaterina Kravchuk, Tatiana Nesterova, Grigory Glukhov, Anna Shestak, Elena Zaklyazminskaya, Olga S Sokolova
Brugada syndrome (BrS) is an inherited disease characterized by right precordial ST-segment elevation in the right precordial leads on electrocardiograms (ECG), and high risk of life-threatening ventricular arrhythmia and sudden cardiac death (SCD). Mutations in the responsible genes have not been fully characterized in the BrS patients, except for the SCN5A gene. We identified a new genetic variant, c.1189C>T (p.R397C), in the KCNH2 gene in the asymptomatic male proband diagnosed with BrS and mild QTc shortening...
March 2024: Biochemistry. Biokhimii︠a︡
#2
JOURNAL ARTICLE
Baiqiang Wang, Qian Ren, Xiaomeng Cui, Wei Shan, Xiangge Guo, Xumeng Wang, Jiaxuan Wang, Yanting Li, Guipeng An
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action potential. Mutations in this gene can cause long QT syndrome and short QT syndrome. Transcript variants encoding distinct isoforms were also identified. In this study, we generated induced pluripotent stem cells (iPSC) from a healthy individual by electroporation of peripheral blood mononuclear cells and generated a KCNH2 heterozygous knockout human iPSC line via CRISPR/Cas9 gene editing...
March 26, 2024: Stem Cell Research
#3
REVIEW
Yukiomi Tsuji, Masatoshi Yamazaki, Masafumi Shimojo, Satoshi Yanagisawa, Yasuya Inden, Toyoaki Murohara
Torsades de Pointes (TdP) refers to a polymorphic ventricular tachycardia (VT) with undulating QRS axis that occurs in long QT syndrome (LQTS), although the term has been used to describe polymorphic ventricular tachyarrhythmias in which QT intervals are not prolonged, such as short-coupled variant of TdP currently known as short-coupled ventricular fibrillation (VF) and Brugada syndrome. Extensive works on LQTS-related TdP over more than 50 years since it was first recognized by Dessertennes who coined the French term meaning "twisting of the points", have led to current understanding of the electrophysiological mechanism that TdP is initiated by triggered activity due to early afterdepolarization (EAD) and maintained by reentry within a substrate of inhomogeneous repolarization...
2024: Frontiers in Cardiovascular Medicine
#4
JOURNAL ARTICLE
Julian Wolfes, Jan Uphoff, Sven Kemena, Felix Wegner, Benjamin Rath, Lars Eckardt, Gerrit Frommeyer, Christian Ellermann
BACKGROUND: The use of SGLT-2 inhibitors has revolutionized heart failure therapy. Evidence suggests a reduced incidence of ventricular and atrial arrhythmias in patients with dapagliflozin or empagliflozin treatment. It is unclear to what extent the reduced arrhythmia burden is due to direct effects of the SGLT2 inhibitors or is solely a marker of improved cardiac function. METHODS: One hundred five rabbit hearts were allocated to eight groups and retrogradely perfused, employing a Langendorff setup...
2024: Frontiers in Cardiovascular Medicine
#5
JOURNAL ARTICLE
Yuko Wada, Lili Wang, Lynn D Hall, Tao Yang, Laura L Short, Joseph F Solus, Andrew M Glazer, Dan M Roden
AIMS: While variants in KCNQ1 are the commonest cause of the congenital long QT syndrome, we and others find only a small IKs in cardiomyocytes from human induced pluripotent stem cells (iPSC-CMs) or human ventricular myocytes. METHODS AND RESULTS: We studied population control iPSC-CMs and iPSC-CMs from a patient with Jervell and Lange-Nielsen (JLN) syndrome due to compound heterozygous loss of function KCNQ1 variants. We compared the effects of pharmacologic IKs block to those of genetic KCNQ1 ablation, using JLN cells, cells homozygous for the KCNQ1 loss of function allele G643S, or siRNAs reducing KCNQ1 expression...
March 5, 2024: Cardiovascular Research
#6
REVIEW
E Schulze-Bahr
The development of the cardiogenetics field in Germany has been increasing since the mid-1990s with many national contributions, some of them were really important and groundbreaking. The starting point was and still is the patient and his family, e.g. with a familial form of arrhythmia or cardiomyopathy, the clarification of the genetic cause and the personalized treatment of those being affected. The scientific, always translationally oriented interest in identifying a causative gene and uncovering the underlying pathomechanisms has led to notable contributions for Brugada syndrome, short QT syndrome and cardiac conduction disorders or sinus node dysfunction, but also in DCM or ARVC...
February 28, 2024: Herzschrittmachertherapie & Elektrophysiologie
#7
EDITORIAL
Larissa Fabritz, Marc D Lemoine
No abstract text is available yet for this article.
February 22, 2024: Cardiovascular Research
#8
REVIEW
Krzysztof Badura, Dominika Buławska, Bartłomiej Dąbek, Alicja Witkowska, Wiktoria Lisińska, Ewa Radzioch, Sylwia Skwira, Ewelina Młynarska, Jacek Rysz, Beata Franczyk
Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit signs of structural heart disease during autopsy, suggesting the potential significance of channelopathies in this group of age. Channelopathies constitute a highly heterogenous group comprising various diseases such as long QT syndrome (LQTS), short QT syndrome (SQTS), idiopathic ventricular fibrillation (IVF), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and early repolarization syndromes (ERS)...
February 2, 2024: International Journal of Molecular Sciences
#9
Radu Gabriel Vătășescu, Silvia Deaconu, Corneliu Nicolae Iorgulescu, Gabriela Marascu, Bogdan Oprita, Alexandru Deaconu
Long QT syndrome (LQT) and WPW syndrome are causes of sudden cardiac death (SCD) in the young, and their association has been rarely reported. A 26-year-old woman presented with recurrent syncope. Her ECG showed a short PR interval, wide QRS (150 ms) due to a delta wave, and QT prolongation (QT 580 ms, QTc 648 ms). ECG monitoring documented recurrent salvos of a self-terminating wide QRS tachycardia, generally slightly polymorphic, sometimes with "torsade des pointes" (TdP) appearance, which were linked to the syncopal/presyncope episodes...
January 30, 2024: Journal of Clinical Medicine
#10
JOURNAL ARTICLE
Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues.
Thomas L Maurissen, Masahide Kawatou, Víctor López-Dávila, Kenji Minatoya, Jun K Yamashita, Knut Woltjen
Disease modeling using human induced pluripotent stem cells (hiPSCs) from patients with genetic disease is a powerful approach for dissecting pathophysiology and drug discovery. Nevertheless, isogenic controls are required to precisely compare phenotypic outcomes from presumed causative mutations rather than differences in genetic backgrounds. Moreover, 2D cellular models often fail to exhibit authentic disease phenotypes resulting in poor validation in vitro. Here we show that a combination of precision gene editing and bioengineered 3D tissue models can establish advanced isogenic hiPSC-derived cardiac disease models, overcoming these drawbacks...
January 31, 2024: Scientific Reports
#11
JOURNAL ARTICLE
Ana I Moreno-Manuel, Álvaro Macías, Francisco M Cruz, Lilian K Gutiérrez, Fernando Martínez, Andrés González-Guerra, Isabel Martínez Carrascoso, Francisco José Bermúdez-Jimenez, Patricia Sánchez-Pérez, María Linarejos Vera-Pedrosa, Juan Manuel Ruiz, Juan A Bernal, José Jalife
AIMS: Short QT Syndrome Type 3 (SQTS3) is a rare arrhythmogenic disease caused by gain-of-function mutations in KCNJ2, the gene coding the inward rectifier potassium channel Kir2.1. We used a multidisciplinary approach and investigated arrhythmogenic mechanisms in an in-vivo model of de-novo mutation Kir2.1E299V identified in a patient presenting an extremely abbreviated QT interval and paroxysmal atrial fibrillation. METHODS AND RESULTS: We used intravenous adeno-associated virus-mediated gene transfer to generate mouse models, and confirmed cardiac-specific expression of Kir2...
January 23, 2024: Cardiovascular Research
#12
REVIEW
Marco Valerio Mariani, Nicola Pierucci, Francesca Fanisio, Domenico Laviola, Giacomo Silvetti, Agostino Piro, Vincenzo Mirco La Fazia, Cristina Chimenti, Marco Rebecchi, Fabrizio Drago, Fabio Miraldi, Andrea Natale, Carmine Dario Vizza, Carlo Lavalle
Pediatric cardiomyopathies (CMs) and electrical diseases constitute a heterogeneous spectrum of disorders distinguished by structural and electrical abnormalities in the heart muscle, attributed to a genetic variant. They rank among the main causes of morbidity and mortality in the pediatric population, with an annual incidence of 1.1-1.5 per 100,000 in children under the age of 18. The most common conditions are dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Despite great enthusiasm for research in this field, studies in this population are still limited, and the management and treatment often follow adult recommendations, which have significantly more data on treatment benefits...
January 3, 2024: Medicina
#13
REVIEW
Lilian K Gutiérrez, Ana I Moreno-Manuel, José Jalife
Sudden cardiac death in children and young adults is a relatively rare but tragic event whose pathophysiology is unknown at the molecular level. Evidence indicates that the main cardiac sodium channel (NaV 1.5) and the strong inward rectifier potassium channel (Kir2.1) physically interact and form macromolecular complexes (channelosomes) with common partners, including adapter, scaffolding and regulatory proteins that help them traffic together to their eventual membrane microdomains. Most important, dysfunction of either or both ion channels has direct links to hereditary human diseases...
January 18, 2024: Heart Rhythm: the Official Journal of the Heart Rhythm Society
#14
JOURNAL ARTICLE
Hiroshi Morita, Akira Ueoka, Tomofumi Mizuno, Takuro Masuda, Saori Asada, Kentaro Ejiri, Masakazu Miyamoto, Satoshi Kawada, Koji Nakagawa, Nobuhiro Nishii, Shinsuke Yuasa
BACKGROUND: Early repolarization syndrome (ERS) is an idiopathic ventricular fibrillation (VF) associated with inferolateral J waves. While electrical storms (ES) in ERS is not rare, their characteristics and risk factors are not fully understood. OBJECTIVE: This study aimed to clarify the significance of ES in ERS. METHODS: We evaluated 44 patients with ERS who experienced VF/sudden cardiac death or arrhythmic syncope. We assessed clinical characteristics to identify the risk factors for ES...
January 17, 2024: Heart Rhythm: the Official Journal of the Heart Rhythm Society
#15
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno, Elijah R Behr, Katherine A Benson, Marta Bertoli, Detlef Bockenhauer, Michael R Bowl, Kate Burley, Li F Chan, Patrick Chinnery, Peter Conlon, Marcos Costa, Alice E Davidson, Sally J Dawson, Elhussein Elhassan, Sarah E Flanagan, Marta Futema, Daniel P Gale, Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin, Sophie Hambleton, Amy R Hicks, Henry Houlden, Richard S Houlston, Sarah A Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Liskova, Hannah Mitchison, Heba Morsy, Andrew D Mumford, William G Newman, Ruxandra Neatu, Edel A O'Toole, Albert Cm Ong, Alistair T Pagnamenta, Shamima Rahman, Neil Rajan, Peter N Robinson, Mina Ryten, Omid Sadeghi-Alavijeh, John A Sayer, Claire L Shovlin, Jenny C Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M van Eerde, James S Ware, Laura M Watts, Andrew R Webster, Sarah K Westbury, Sean L Zheng, Mark Caulfield, Damian Smedley
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We have published the confirmation of one of these associations, hereditary ataxia with UCHL1 , and independent confirmatory evidence has recently been published for four more...
December 21, 2023: medRxiv
#16
JOURNAL ARTICLE
Johanna B Tonko, Pier D Lambiase
Ventricular arrhythmias in cardiac channelopathies are linked to autonomic triggers, which are sub-optimally targeted in current management strategies. Improved molecular understanding of cardiac channelopathies and cellular autonomic signalling could refine autonomic therapies to target the specific signalling pathways relevant to the specific aetiologies as well as the central nervous system centres involved in the cardiac autonomic regulation. This review summarizes key anatomical and physiological aspects of the cardiac autonomic nervous system (ANS) and its impact on ventricular arrhythmias in primary inherited arrhythmia syndromes...
January 9, 2024: Cardiovascular Research
#17
Ikechukwu Ifedili, Miguel Maturana, Sharif Kayali, Yehoshua Levine, Rajesh Kabra, Sunil K Jha
INTRODUCTION: We report the case of an 18-year-old female with recurrent syncope that was discovered to have congenital long QT syndrome (LQTS) and episodes of a transiently short QT interval after spontaneous termination of polymorphic ventricular tachycardia. METHODS & RESULTS: A cardiac event monitor revealed a long QT interval and initiation of polymorphic ventricular tachycardia by a premature ventricular complex on the preceding T-wave. After 1 minute of ventricular fibrillation, her arrhythmia spontaneously terminated with evidence of a short QT interval...
January 4, 2024: Journal of Cardiovascular Electrophysiology
#18
REVIEW
Adelina Pupaza, Eliza Cinteza, Corina Maria Vasile, Alin Nicolescu, Radu Vatasescu
Sudden cardiac death (SCD) in children is a devastating event, often linked to primary electrical diseases (PED) of the heart. PEDs, often referred to as channelopathies, are a group of genetic disorders that disrupt the normal ion channel function in cardiac cells, leading to arrhythmias and sudden cardiac death. This paper investigates the unique challenges of risk assessment and stratification for channelopathy-related SCD in pediatric patients-Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, long QT syndrome, Anderson-Tawil syndrome, short QT syndrome, and early repolarization syndrome...
November 28, 2023: Diagnostics
#19
JOURNAL ARTICLE
Deniz Billur, Yusuf Olgar, Aysegul Durak, Ayse Hande Yozgat, Simge Unay, Erkan Tuncay, Belma Turan
Cardiac conduction abnormalities are disorders in metabolic syndrome (MetS), however, their mechanisms are unknown. Although ventricular arrhythmia reflects the changes in QT-interval of electrocardiograms associated with the changes in cardiomyocyte action potential durations (APDs), recent studies emphasize role of intercellular crosstalk between cardiomyocytes and nonmyocytes via passive (electrotonic)-conduction. Therefore, considering the possible increase in intercellular interactions of nonmyocytes with cardiomyocytes, we hypothesized an early-cardiac-remodeling characterized by short QT-interval via contributions and modulations of changes by nonmyocytes to the ventricular APs in an early-stage MetS hearts...
November 28, 2023: Cell Biochemistry and Function
#20
JOURNAL ARTICLE
Pierre Lodewyckx, Jean Issa, Margaux Gaschignard, Delphine Lamireau, Pascale De Lonlay, Aude Servais, Magalie Barth, Sandy Courapied, Gilles Morin, Nadir Benbrik, François Maillot, Dominique Babuty, François Labarthe, Bruno Lefort
BACKGROUND: Systemic primary carnitine deficiency (PCD) is characterized by cardiomyopathy and arrhythmia. Without carnitine supplementation, progression is usually towards fatal cardiac decompensation. While the cardiomyopathy is most likely secondary to energy deficiency, the mechanism of arrhythmia is unclear, and may be related to a short QT interval. OBJECTIVE: We aim to describe rhythmic manifestations at diagnosis and with carnitine supplementation. METHODS: French patients diagnosed for PCD were retrospectively included...
December 2023: Molecular Genetics and Metabolism
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