Article
Cardiac & Cardiovascular Systems
Paula Morlanes-Gracia, Guido Antoniutti, Jorge Alvarez-Rubio, Laura Torres-Juan, Damian Heine-Suner, Tomas Ripoll-Vera
Summary: This study describes a family with a novel missense mutation in the NKX2-5 gene, with several ancestors affected by various heart diseases.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Genetics & Heredity
Jing Zhang, Xiu Han, Qun Lu, Yunfei Feng, Aiqun Ma, Tingzhong Wang
Summary: In this study, genetic analysis using next-generation sequencing (NGS) was performed on a Chinese family, revealing a mutation in the PRKAG2 gene associated with left ventricular non-compaction cardiomyopathy (LVNC). This finding extends the spectrum of LVNC phenotypes related to PRKAG2 gene mutations.
BMC MEDICAL GENOMICS
(2022)
Article
Cardiac & Cardiovascular Systems
Bihe Xu, Jing Yang, Fang Liu, Tingting Lv, Kun Li, Yifang Yuan, Siyuan Li, Yuanwei Liu, Ping Zhang
Summary: This study retrospectively analyzed the clinical and genetic characteristics of 24 patients with catecholaminergic polymorphic ventricular tachycardia. The results showed that the overlap between catecholaminergic polymorphic ventricular tachycardia and left ventricular non-compaction may lead to lower threshold heart rate for ventricular premature beat/ventricular tachycardia during exercise stress test, indicating a worse prognosis and requiring strict follow-up.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Cardiac & Cardiovascular Systems
Bihe Xu, Kun Li, Fang Liu, Lingyun Kong, Jing Yang, Boda Zhou, Tingting Lv, Yuanwei Liu, Fei She, Rong He, Ping Zhang
Summary: This study presented a case of a 22-year-old female with long QT syndrome, treated effectively with mexiletine. The patient showed shortened QTc interval and improved T wave morphology after treatment. Similar symptoms were also found in her family members, suggesting a possible missense mutation in the KCNH2 gene.
INTERNATIONAL HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Giulia Brunetti, Francesca Graziano, Luna Cavigli, Alberto Cipriani, Flavio D'Ascenzi, Barbara Bauce, Kalliopi Pilichou, Martina Perazzolo Marra, Domenico Corrado, Alessandro Zorzi
Summary: The study investigated the role of non-ischaemic left ventricular scar in ventricular arrhythmias in athletes, and tested the diagnostic value of arrhythmia reproducibility in repeated exercise testing. The results showed that athletes with NILVS were more likely to have reproducible arrhythmias in repeated ET, while those without NILVS showed inconsistent arrhythmias in repeat testing.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Bode Ensam, Christopher C. Cheung, Fahad Almehmadi, Bo Gregers Winkel, Chiara Scrocco, Paul Brennan, Kevin Leong, Alison Muir, Amanda Vanarva, Jacob Tfelt-Hansen, Jason D. Roberts, Andrew D. Krahn, Elijah R. Behr
Summary: The rate of drug-induced type 1 Brugada ECG pattern in survivors of cardiac arrest is 17%, and baseline type 2/3 Brugada pattern and PR interval are independent predictors of this pattern. Furthermore, this study found evidence of higher heritability of Brugada syndrome phenotype and identified independent predictors of ventricular fibrillation recurrence in cardiac arrest survivors.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Michelle M. Monasky, Emanuele Micaglio, Emanuela T. Locati, Carlo Pappone
Summary: The evolution of the current dogma surrounding Brugada syndrome has sparked a significant debate about the true utility of genetic testing in this syndrome. While genetic testing can provide valuable insights into the genetics of BrS, it should not be used solely for diagnostic purposes. BrS is no longer seen as a pure autosomal dominant disorder, but rather as an oligogenic condition, with the need for further research to understand the effects of specific genetic variants.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Wuwan Wang, Wei Chen, Xue Lin, Ligang Fang
Summary: This study aimed to investigate the influence of right ventricular (RV) dysfunction on the clinical outcomes of patients with LVNC through accurate and comprehensive measurements of RV function. The results showed that RV dysfunction is associated with the prognosis of patients with LVNC, and RV dysfunction and impaired RV global longitudinal strain are independent predictors of mortality.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Cell Biology
Christine Mages, Heike Gampp, Pascal Syren, Ann-Kathrin Rahm, Florian Andre, Norbert Frey, Patrick Lugenbiel, Dierk Thomas
Summary: This review highlights the pathomechanisms underlying arrhythmogenicity in patients with heart failure, such as myocardial fibrosis and ion channel remodeling. It emphasizes the association of dysregulated ion channel expression with cardiomyopathy and arrhythmia development, and discusses potential therapeutic options.
Article
Cardiac & Cardiovascular Systems
You-Jung Choi, Hyun-Jung Lee, Ji-Suck Park, Chan Soon Park, Tae-Min Rhee, Jah Yeon Choi, Hong-Mi Choi, Jun-Bean Park, Yeonyee E. Yoon, Seung-Pyo Lee, Jin Oh Na, Goo-Yeong Cho, Yong-Jin Kim, In-Chang Hwang, Hyung-Kwan Kim
Summary: The aim of this study was to investigate the prognostic utility of left ventricular global longitudinal strain (LV-GLS) in patients with hypertrophic cardiomyopathy (HCM) and a left ventricular ejection fraction (LVEF) of 50-60%. The study included 349 HCM patients with an LVEF of 50-60%, and the results showed that LV-GLS was an independent predictor of a composite outcome including cardiovascular death in these patients. Therefore, LV-GLS can aid in risk stratification in HCM patients with an LVEF of 50-60%.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
James P. Curtain, Kieran F. Docherty, Pardeep S. Jhund, Mark C. Petrie, Silvio E. Inzucchi, Lars Kober, Mikhail N. Kosiborod, Felipe A. Martinez, Piotr Ponikowski, Marc S. Sabatine, Olof Bengtsson, Anna Maria Langkilde, Mikaela Sjostrand, Scott D. Solomon, John J. McMurray
Summary: The study aimed to examine the effect of dapagliflozin on the incidence of ventricular arrhythmias and sudden death in patients with HFrEF. The analysis found that dapagliflozin reduced the risk of serious ventricular arrhythmias, cardiac arrest, or sudden death in these patients compared to placebo.
EUROPEAN HEART JOURNAL
(2021)
Article
Pediatrics
Stephan Gerling, Tobias Pollinger, Holger Michel, Markus-Johann Dechant, Michael Melter, Werner Krutsch
Summary: The research found that elite soccer training in adolescent male is primarily related to cardiac resistance remodeling, with adolescent players potentially developing supernormal left ventricular wall dimensions. If a competitive soccer player has any LV dimension Z-score value above + 2.5, primary or secondary cardiomyopathy should be excluded.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Cinzia Crescenzi, Alessandro Zorzi, Teresina Vessella, Annamaria Martino, Germana Panattoni, Alberto Cipriani, Manuel De Lazzari, Martina Perazzolo Marra, Armando Fusco, Luigi Sciarra, Fabio Sperandii, Emanuele Guerra, Eliana Tranchita, Chiara Fossati, Fabio Pigozzi, Patrizio Sarto, Leonardo Calo, Domenico Corrado
Summary: By evaluating the characteristics of ventricular arrhythmias in athletes, it was found that the number and morphology of premature ventricular beats on 12-lead 24-hour ambulatory ECG monitoring, as well as the response to exercise testing, could predict the presence of concealed myocardial abnormalities on cardiac magnetic resonance imaging.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Genetics & Heredity
Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye, Yubi Lin
Summary: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a condition associated with ventricular arrhythmia, heart failure, and sudden death. Thromboembolism is also a serious complication of ARVC/D. This study identified a Chinese Han family with ARVC/D and characterized their genetic mutations. The LMNA and LAMA4 gene variants were found to be potentially pathogenic and associated with the manifestation of ARVC/D and related symptoms.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Cardiac & Cardiovascular Systems
Kseniya Perepelina, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Kostareva
Summary: In this study, we successfully created an in vitro cardiac model of laminopathy using induced pluripotent stem cells from a patient carrying the LMNA p.R249Q genetic variant. Our findings demonstrate that this genetic variant leads to abnormal sodium currents in cardiomyocytes and alters the transcription levels of cardiac-specific genes.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)