Article
Cardiac & Cardiovascular Systems
Silvia G. Priori, Andrea Mazzanti, Demetrio J. Santiago, Deni Kukavica, Alessandro Trancuccio, Jason C. Kovacic
Summary: This article focuses on the precision medicine opportunities for catecholaminergic polymorphic ventricular tachycardia (CPVT), highlighting that CPVT can manifest as typical or atypical forms with different genetic changes and features, which is crucial for implementing personalized therapeutic approaches.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Review
Pharmacology & Pharmacy
Junxia Song, Yanhong Luo, Ying Jiang, Jianfeng He
Summary: Catecholaminergic polymorphic ventricular tachycardia is a primary arrhythmogenic syndrome commonly seen in adolescents, with a high mortality rate but often overlooked or misdiagnosed. The disease mechanism is related to sympathetic excitation, with patients typically lacking organic heart disease and showing subtle clinical manifestations.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Dania Kallas, Avani Lamba, Thomas M. Roston, Alia Arslanova, Sonia Franciosi, Glen F. Tibbits, Shubhayan Sanatani
Summary: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and potentially lethal inherited arrhythmia disease characterized by exercise or emotion-induced ventricular tachyarrhythmias. Most CPVT patients have pathogenic variants in the genes encoding cardiac ryanodine receptor or calsequestrin 2, leading to mishandling of calcium in cardiomyocytes and resulting in arrhythmias. Despite decades of research, risk stratification is imprecise and long-term prognosis remains unknown for pediatric CPVT patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Keiko Shimamoto, Seiko Ohno, Koichi Kato, Koichiro Takayama, Keiko Sonoda, Megumi Fukuyama, Takeru Makiyama, Satomi Okamura, Koko Asakura, Noriaki Imanishi, Yoshiaki Kato, Heima Sakaguchi, Tsukasa Kamakura, Mitsuru Wada, Kenichiro Yamagata, Kohei Ishibashi, Yuko Inoue, Koji Miyamoto, Satoshi Nagase, Kengo Kusano, Minoru Horie, Takeshi Aiba
Summary: This study investigated the inheritance and clinical significance of CPVT1-related RYR2 variants, and the differences between familial and de novo cases. The study found that CPVT1 probands with de novo RYR2 variants had an earlier onset of symptoms compared to those with assured familial inheritance. Cascade screening is recommended for early diagnosis and prophylactic therapeutic intervention.
Review
Physiology
Yukun Li, Xiaodong Peng, Rong Lin, Xuesi Wang, Xinmeng Liu, Rong Bai, Changsheng Ma, Ribo Tang, Yanfei Ruan, Nian Liu
Summary: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmia disorder. Beta-blockers are commonly used, but some patients do not respond well to this treatment. Studies suggest that flecainide effectively prevents life-threatening arrhythmias in CPVT, but the mechanism of action is debated.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Stephane Zaffran, Lilia Kraoua, Hager Jaouadi
Summary: This review discusses the genetic etiology of cardiac diseases related to calcium mishandling, focusing on catecholaminergic polymorphic ventricular tachycardia (CPVT) as a cardiac channelopathy and hypertrophic cardiomyopathy (HCM) as a primary cardiomyopathy. It emphasizes that calcium-handling perturbations are the common pathophysiological mechanism despite the genetic heterogeneity of cardiac defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Physiology
Angela F. Dulhunty
Summary: Mutations in the cardiac ryanodine receptor Ca2+ release channel (RyR2) can lead to catecholaminergic polymorphic ventricular tachycardia (CPVT), characterized by increased cytoplasmic Ca2+ concentrations during diastole due to Ca2+ leak from the sarcoplasmic reticulum (SR). The influx of Na+ through the sodium calcium exchanger (NCX) decreases cytoplasmic Ca2+ but triggers delayed after depolarizations (DADs) and arrhythmias. Current therapies have side effects and can affect other target processes.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Biology
Justin Leung, Sharen Lee, Jiandong Zhou, Kamalan Jeevaratnam, Ishan Lakhani, Danny Radford, Emma Coakley-Youngs, Levent Pay, Goksel Cinier, Meltem Altinsoy, Amir Hossein Behnoush, Elham Mahmoudi, Pawel T. Matusik, George Bazoukis, Sebastian Garcia-Zamora, Shaoying Zeng, Ziliang Chen, Yunlong Xia, Tong Liu, Gary Tse
Summary: This is the first systematic review of CPVT patients from China. Most patients had symptoms on initial presentation, with syncope as the most common complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2, TERCL, and SCN10A mutations.
Article
Chemistry, Multidisciplinary
Jiang-fan Wan, Gang Wang, Fu-ying Qin, Dan-ling Huang, Yan Wang, Ai-ling Su, Hai-ping Zhang, Yang Liu, Shao-yin Zeng, Chao-liang Wei, Yong-xian Cheng, Jie Liu
Summary: In this study, researchers discovered that a meroterpenoid compound called Z16b isolated from Ganoderma cochlear can effectively inhibit excessive Ca2+ spark frequency and abnormal Ca2+ release events in CPVT models. They found that Z16b interacts with a protein called RyR2, enhancing its stability and preventing CPVT. These findings suggest that Z16b could be a potential novel treatment for CPVT.
ACTA PHARMACOLOGICA SINICA
(2022)
Review
Cardiac & Cardiovascular Systems
Paloma Remior Perez, Robyn J. Hylind, Thomas M. Roston, Vassilios J. Bezzerides, Dominic J. Abrams
Summary: In the past thirty years, the genetic basis of various inherited arrhythmia syndromes has been elucidated, providing insights into cardiomyocyte biology and regulatory pathways associated with cellular excitation, contraction, and repolarisation. As the understanding of genetic sequence manipulation and gene-based therapies has grown, exploring the potential of gene therapy for inherited arrhythmia has become possible. This review focuses on catechol-aminergic polymorphic ventricular tachycardia (CPVT) and discusses its clinical manifestations, genetic basis, molecular biology, and current research on gene therapy.
HEART LUNG AND CIRCULATION
(2023)
Review
Genetics & Heredity
Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua, Chuan Wang
Summary: This study identified a total of 95 Chinese pediatric patients with CPVT, highlighting delayed diagnosis, non-standard usage of beta-blockers, and availability issues of certain medications as contributing factors to a poorer prognosis compared to other cohorts. Variants in RYR2 and CASQ2 genes were common among patients, with different mutation types showing varied clinical manifestations and outcomes.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Health Care Sciences & Services
Henrik Eckert, Ibrahim El-Battrawy, Michael Veith, Gretje Roterberg, Jacqueline Kowitz, Siegfried Lang, Xiaobo Zhou, Ibrahim Akin, Andreas Muegge, Assem Aweimer
Summary: This study compared the complications of transvenous and subcutaneous implantable cardioverter-defibrillators (ICDs). The results showed that subcutaneous ICDs (S-ICDs) have certain advantages over transvenous ICDs (T-ICDs) in terms of lead-related complications. However, S-ICDs still have issues with inappropriate shocks and other ICD-related complications. Therefore, a case-by-case decision is recommended, but the continuous improvement of S-ICDs may make them an overall advantageous therapy option in the future.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Editorial Material
Oncology
Francisco Hermida-Prado, Rinath Jeselsohn
Summary: ESR1 ligand-binding mutations, the most common genetic mechanism of acquired resistance to endocrine treatment, lead to constitutive ligand-independent activity, emerging under the selective pressure of aromatase inhibitors. New models of these mutations have been generated using CRISPR technology, shedding light on their functional consequences.
Review
Microbiology
Justin Beardsley, Aiken Dao, Caitlin Keighley, Katherine Garnham, Catriona Halliday, Sharon C. -A. Chen, Tania C. Sorrell
Summary: Cryptococcus species are a significant cause of life-threatening infections, with Cryptococcus neoformans being the most common, and Cryptococcus gattii responsible for a significant number of cases worldwide. Despite optimal treatment, C. gattii infections have high early mortality rates. The lack of effective therapies and robust clinical and epidemiological data led to the classification of C. gattii as a medium-priority pathogen on the Fungal Priority Pathogen List released by the World Health Organization. This review summarizes the latest research on the taxonomy, epidemiology, pathogenesis, laboratory testing, and management of C. gattii infections.
Article
Medicine, General & Internal
Giulia Borile, Tania Zaglia, Stephan E. Lehnart, Marco Mongillo
Summary: CPVT is a familial stress-induced arrhythmia syndrome, mainly caused by RyR2 mutations, leading to enhanced channel function and promotion of SCR in cardiomyocytes. Studies have shown that in CPVT models, cardiomyocytes are more likely to develop SCR upon adrenergic stimulation, potentially resulting in arrhythmias at the tissue level.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Cardiac & Cardiovascular Systems
Gary Tse, Quinncy Lee, Oscar Hou In Chou, Cheuk To Chung, Sharen Lee, Jeffrey Shi Kai Chan, Guoliang Li, Narinder Kaur, Leonardo Roever, Haipeng Liu, Tong Liu, Jiandong Zhou
Summary: Routinely collected electronic health records (EHRs) data provide valuable information for epidemiological studies, and the use of big data and artificial intelligence (AI) has rapidly increased in Hong Kong since 2015. The advantages of big data include generalizability, simultaneous determination of multiple outcomes, ease of cross-validation, analysis of numerous variables, analysis of static and dynamic variables, capturing non-linear and latent interactions, and enhancing prediction models with AI approaches.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Sneha Annie Sebastian, Edzel Lorraine Co, Atiyah Tidd-Johnson, Selia Chowdhury, Esha Jain, Michael Davidson, Gurpreet Johal
Summary: Carotid ultrasound screening plays a contributory role in cardiovascular risk stratification and prevention of CVD, aiding in early detection of subclinical atherosclerosis.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Anas Alsughayer, Abdulmajeed Alharbi, Momin Shah, Michelle Cherian, Rohit Vyas, Ragheb Assaly
Summary: This study investigates the relationship between myocardial bridging (MB) and hypertrophic cardiomyopathy (HCM) and their impact on percutaneous coronary intervention (PCI) outcomes. The findings indicate that HCM patients have a higher risk of post-PCI complications, including atrial fibrillation and acute kidney injury, while MB is associated with increased occurrences of acute heart failure and post-PCI bleeding.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Junsu Lee, Hyunmin Lee, Adham El Sherbini, Leili Baghaie, Fleur Leroy, Husam Abdel-Qadir, Myron R. Szewczuk, Mohammad El-Diasty
Summary: Postoperative atrial fibrillation (POAF) is a common complication after cardiac surgery and can increase the risk for adverse outcomes. Current literature suggests that miRNAs may play a role in predicting the development of atrial fibrillation after cardiac surgery, but more robust clinical data are needed to justify their use in routine clinical practice.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Umael Khan, Usman Afzal, Lauri Kask, Nasir Saeed, Ronak Rajani, Eivind Solheim, Sahrai Saeed
Summary: This case study demonstrates the ECG changes in a patient with severe hypokalemia caused by diarrhea. It highlights the distinguishing features of bifid T-waves in hypokalemia compared to other conditions, such as coronary artery disease or pericarditis. Furthermore, it shows the gradual reversal of ECG changes when potassium levels are normalized.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Jessica Hernandez-Duran, Laura Valentina Lopez-Gutierrez, Maria Isabel Palacio-Mejia, Luisa Aguilera, Lucrecia Burgos, Clara Ines Saldarriaga Giraldo
Summary: This article examines the current situation of heart failure in Latin American women and identifies the need for future research.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Salman Salehin, Wissam Harmouch, Maha Yaqub, Umer Khan, Anwar Merie, Shahran Salehin, Syed Mustajab Hasan, Wissam Khalife, Muhie Dean Sabayon, Khaled Chatila, Muhammad Raja
Summary: Heart failure is a significant global health issue with high mortality rates. While guideline-directed medical therapy and device-based therapies have improved outcomes, not all advanced heart failure patients benefit from these treatments. Cardiac contractility modulation is an innovative therapy that aims to improve functional outcomes and quality of life for these patients.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Letter
Cardiac & Cardiovascular Systems
Muhammad Hamza Shafiq, Maham Jabeen, Izza Shakeel, Erum Zaidi
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Guang-Gui Zeng, Qiong Lei, Wan-Li Jiang, Xing-Xing Zhang, Liluo Nie, Xianghao Gong, Kang Zheng
Summary: This research paper uses bibliometric analysis to examine the historical evolution, current areas of interest, and future development trends of ABCG1. It reveals that research on ABCG1 has remained active over the past two decades and has started to expand into other fields such as cancer research. This study provides insights into the research status and emerging trends of ABCG1, and offers potential areas of focus for future studies.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Guillermo Cueto-Robledo, Leslie-Marisol Gonzalez-Hermosillo, Mateo Porres-Aguilar, Dulce-Iliana Navarro-Vergara, Marisol Garcia-Cesar, Maria-Berenice Torres-Rojas, Alma Daniela Martinez-Carrillo, Hector R. Cajigas
Summary: This study evaluated the indications for performing RHC and the occurrence of adverse events related to the procedure in patients aged >= 70 years in a Mexican Tertiary Care Center. The findings suggest that RHC can be safely performed in patients aged >= 70 years without significant major complications.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Hritvik Jain, Mohammed Dheyaa Marsool Marsool, Aman Goyal, Samia Aziz Sulaiman, Laveeza Fatima, Muhammad Idrees, Bhavya Sharma, Vamsikalyan Borra, Prakash Gupta, Abdullah Nadeem, Jyoti Jain, Hassam Ali, Amir H. Sohail
Summary: Dysbiosis of the gut microbiota may play a role in the development of heart failure, and exploring this role could lead to the discovery of new biomarkers, preventive measures, and therapeutic targets.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Letter
Cardiac & Cardiovascular Systems
Siraj Memon, Kashifa Qureshi
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Lanlan Zhang, Yanmin Zhang, Jing Wang, Shengjun Ta, Jia Zhao, Lu Yao, Chao Han, Jiao Liu, Xueli Zhao, Jiarui Yuan, Ruoxuan Li, Bo Shan, Yue Wang, Yuze Qin, Bo Wang, Liwen Liu
Summary: This study analyzed the clinical characteristics of 1023 unrelated hypertrophic cardiomyopathy (HCM) patients carrying the MYH7-R143Q variant. It was found that patients carrying this variant were often diagnosed between the ages of 31-40, with moderate hypertrophy and fibrosis concentrated in the anterior and inferior septum, indicating a moderate risk of sudden cardiac death (SCD). Moreover, this variant exhibited different genetic characteristics, including incomplete penetrance of autosomal dominant inheritance and polygenic cumulative effect.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Akanimo Antia, Chinonso Ndukauba, Ruth Pius, Oghenetejiri Gbegbaje, Kenneth Ong
Summary: Weekend admissions for cardiogenic shock (CS) are associated with worse outcomes, including higher mortality and cardiac arrest rates. This situation has persisted for years and may be related to physician dissatisfaction, understaffing, or burnout.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)
Review
Cardiac & Cardiovascular Systems
Ruben Lopez-Bueno, Lin Yang, Joaquin Calatayud, Lars Louis Andersen, Borja del Pozo Cruz
Summary: This study examined the dose-response association between cardiovascular health (CVH) and all-cause, cardiovascular disease (CVD), and cancer mortality among cancer survivors. The findings showed that higher CVH levels were associated with a lower risk of all-cause mortality and a curvilinear relationship with CVD deaths. However, no significant association was found between CVH and cancer deaths.
CURRENT PROBLEMS IN CARDIOLOGY
(2024)