Article
Biochemistry & Molecular Biology
Yu Yamamori, Kentaro Tomii
Summary: This study proposes a method for constructing atomic structure models based on cryo-EM maps with low-to-medium resolution, which combines sensitive and accurate homology modeling with molecular dynamics simulation. Benchmark applications were used to evaluate the model constructions of two target proteins.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Gan-Xiao Chen, Hector Barajas-Martinez, Giuseppe Ciconte, Cheng- Wu, Michelle M. Monasky, Hao Xia, Bian Li, John A. Capra, Kai Guo, Zhong-He Zhang, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Chloe Miu Mak, Yoshiyasu Aizawa, Michael H. Gollob, Charles Antzelevitch, Arthur A. M. Wilde, Carlo Pappone, Dan Hu
Summary: In this study, a clinical analysis was conducted on 261 patients diagnosed with fever-induced Brugada syndrome (BrS). It was found that patients carrying pathogenic or likely pathogenic (P/LP) SCN5A gene variants were more susceptible to fever-induced BrS at a younger age, especially among Caucasian individuals and females. These patients exhibited significant electrophysiological abnormalities and had a higher incidence of major cardiac events (MCE).
Article
Cardiac & Cardiovascular Systems
Fiorenzo Gaita, Natascia Cerrato, Carla Giustetto, Annamaria Martino, Laura Bergamasco, Michele Millesimo, Lorella Barbonaglia, Paula Carvalho, Domenico Caponi, Andrea Saglietto, Giacomo Bonacchi, Francesca Bianchi, Elisa Silvetti, Cinzia Crescenzi, Stefano Canestrelli, Melissa De Maio, Gaetano Maria De Ferrari, Giuseppe Musumeci, Francesco Rametta, Marco Scaglione, Leonardo Calo
Summary: The study evaluated the long-term prognosis of a large cohort of asymptomatic patients with Brugada ECG pattern. The entire population of asymptomatic patients with BrECG exhibited a relatively low event rate per year, with those having spontaneous type-1 BrECG and positive EPS showing higher risk. Asymptomatic patients with drug-induced-only BrECG had minimal arrhythmic risk, but ongoing follow-up was recommended to detect the appearance of spontaneous type-1 BrECG pattern.
Review
Nutrition & Dietetics
Sara D'Imperio, Michelle M. Monasky, Emanuele Micaglio, Gabriele Negro, Carlo Pappone
Summary: A healthy lifestyle is crucial for preventing cardiovascular diseases, particularly in inherited heart conditions such as BrS and LQTS. By adjusting dietary habits and lifestyle factors, the risk of arrhythmic events and mortality can be influenced.
Review
Cardiac & Cardiovascular Systems
Estefania Martinez-Barrios, Elena Arbelo, Sergi Cesar, Jose Cruzalegui, Victoria Fiol, Nuria Diez-Escute, Clara Hernandez, Ramon Brugada, Josep Brugada, Oscar Campuzano, Georgia Sarquella-Brugada
Summary: Brugada syndrome is an arrhythmogenic disease with a higher prevalence and risk in males compared to females. Females with the syndrome are more frequently asymptomatic and older at the time of diagnosis. Sex hormones, particularly testosterone, may play a role in these differences. However, current research on Brugada syndrome focuses mainly on males, lacking gender-related information.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Andrea Ghiroldi, Giuseppe Ciconte, Pasquale Creo, Adriana Tarantino, Dario Melgari, Sara D'Imperio, Marco Piccoli, Federica Cirillo, Emanuele Micaglio, Michelle M. Monasky, Anthony Frosio, Emanuela T. Locati, Gabriele Vicedomini, Ilaria Rivolta, Carlo Pappone, Luigi Anastasia
Summary: Brugada Syndrome (BrS) is a genetic arrhythmogenic disorder associated with mutations in genes affecting the sodium channel NaV1.5. This study investigated the involvement of sialylation, a post-translational modification, in BrS. The researchers found significant alterations in gene expression and protein sialylation in BrS patients, which were associated with the clinical phenotype of the disease. Furthermore, protein desialylation was found to reduce sodium current. These findings suggest that dysregulation of sialylation may play a role in BrS and could potentially be used as a biomarker for the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Martijn H. Van der Ree, Jeroen Vendrik, Jan A. Kors, Ahmad S. Amin, Arthur A. M. Wilde, Hanno L. Tan, Pieter G. Postema
Summary: This study found that 18% of BrS patients exhibited a left axis deviation during provocation testing, which was not explained by terminal conduction slowing in the right ventricular outflow tract but was associated with more proximal conduction slowing. The left axis deviation led to a discordant repolarization, and it remains uncertain whether this has implications for risk stratification.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Bastiaan J. Boukens, Mark Potse, Ruben Coronel
Summary: Brugada syndrome and early repolarization syndrome are both J-wave syndromes with similar mechanisms of arrhythmogenesis and structural abnormalities. As imaging techniques advance, these syndromes may be reclassified as structural heart diseases or cardiomyopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Giacomo Talevi, Luigi Pannone, Cinzia Monaco, Edoardo Bori, Ida Anna Cappello, Mara Candelari, Robbert Ramak, Mark La Meir, Ali Gharaviri, Gian Battista Chierchia, Bernardo Innocenti, Carlo de Asmundis
Summary: This study successfully used 3D printing technology to create a surgical guide for epicardial ablation in Brugada syndrome, demonstrating its suitability for cardiac anatomy and good stability.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Genetics & Heredity
Marina Cerrone, Sarah Costa, Mario Delmar
Summary: Brugada syndrome is an ion channel disease characterized by a unique ECG pattern and increased risk of cardiac arrhythmias. Although the genetic transmission of this condition is diverse, the SCN5A gene is considered the primary disease-causing gene. Current understanding of the genetic architecture of the disease suggests involvement of polygenic inheritance and a polygenic risk score.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
(2022)
Review
Cardiac & Cardiovascular Systems
Francesco Vitali, Alessandro Brieda, Cristina Balla, Rita Pavasini, Elisabetta Tonet, Matteo Serenelli, Roberto Ferrari, Pietro Delise, Claudio Rapezzi, Matteo Bertini
Summary: The 12-lead ECG plays a crucial role in diagnosing Brugada syndrome. A systematic review identified 12 specific ECG features associated with a higher risk of sudden death in BrS patients. A multiparametric risk assessment approach based on these ECG parameters could potentially improve current risk stratification scores and warrants further investigation.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Alessio Galli, Alessandro Rizzo, Cinzia Monaco, Francesca Salghetti, Oriana Scala, Gian Battista Chierchia, Mark La Meir, Pedro Brugada, Carlo de Asmundis
Summary: Brugada syndrome is responsible for about 20% of sudden cardiac deaths in apparently normal hearts, mainly characterized by ventricular arrhythmias. Research has found that delays in activation and repolarization over the right ventricular outflow tract may be the main cause of the typical ECG pattern and arrhythmias. Noninvasive mapping systems may be important for evaluating the arrhythmogenic substrate of Brugada syndrome.
TRENDS IN CARDIOVASCULAR MEDICINE
(2021)
Review
Medicine, General & Internal
Nicolo Martini, Martina Testolina, Gian Luca Toffanin, Rocco Arancio, Luca De Mattia, Sergio Cannas, Giovanni Morani, Bortolo Martini
Summary: Brugada syndrome is characterized by a unique electrocardiographic pattern and major ventricular arrhythmic events, with ajmaline challenge being a popular test despite controversial results. Additionally, the characteristic pattern of this syndrome may also be induced in other cardiac or systemic diseases.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Luigi Pannone, Antonio Bisignani, Randy Osei, Anais Gauthey, Antonio Sorgente, Pasquale Vergara, Cinzia Monaco, Domenico Giovanni Della Rocca, Alvise Del Monte, Antanas Strazdas, Joerelle Mojica, Maysam Al Housari, Vincenzo Miraglia, Sahar Mouram, Gaetano Paparella, Robbert Ramak, Ingrid Overeinder, Gezim Bala, Alexandre Almorad, Erwin Stroker, Gudrun Pappaert, Juan Sieira, Thomy de Ravel, Mark La Meir, Pedro Brugada, Gian Battista Chierchia, Sonia Van Dooren, Carlo de Asmundis
Summary: The diagnostic yield of SCN5A gene testing in paediatric BrS patients is 46%, and having a P/LP variant in SCN5A is associated with a worse arrhythmic prognosis in children with BrS. There is no significant difference in the prognosis of ventricular arrhythmias between paediatric and adult BrS patients.
Review
Biochemistry & Molecular Biology
Irene Paula Popa, Dragomir N. Serban, Minela Aida Maranduca, Ionela Lacramioara Serban, Bogdan Ionel Tamba, Ionut Tudorancea
Summary: Brugada syndrome is a rare hereditary arrhythmia disorder with a distinct ECG pattern. It is correlated with an increased risk of ventricular arrhythmias and sudden cardiac death in young adults. The molecular anomalies in Brugada syndrome result in modifications in excitation wavelength, leading to an increased risk of arrhythmia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)