Article
Cardiac & Cardiovascular Systems
Tae-Hwi Schwantes-An, Cassianne Robinson-Cohen, Sai Liu, Neil Zheng, Margaret Stedman, Leah Wetherill, Howard J. Edenberg, Matteo Vatta, Tatiana M. Foroud, Glenn M. Chertow, Sharon M. Moe
Summary: The G3 variant in the APOL1 gene was found to be associated with cardiovascular mortality and sudden cardiac death in European ancestry patients receiving dialysis. Validation studies using ICD codes in the Vanderbilt BioVU also confirmed associations between cardiovascular events and cardiovascular mortality in EA participants.
CARDIORENAL MEDICINE
(2022)
Article
Genetics & Heredity
Livia Beccacece, Paolo Abondio, Arianna Giorgetti, Carla Bini, Guido Pelletti, Donata Luiselli, Susi Pelotti
Summary: In this study, a case-control analysis was conducted through post-mortem genome-wide screening to identify genetic markers associated with SCD. A high number of novel genetic variants were found, with 25 polymorphisms consistent with a link to cardiovascular diseases. Existing research has confirmed the associations between many genes, cardiovascular system functioning, and diseases, as well as the potential risk factors involving lipid, cholesterol, arachidonic acid, and drug metabolisms in SCD. Further investigations are needed to validate the novelty of these results.
Article
Biochemistry & Molecular Biology
Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Oscar Campuzano, Josep Castella, Ramon Brugada, Mireia Alcalde
Summary: This study examined rare intronic variants in SCD cases to determine their effect on splicing. The results showed that variants affecting canonical splice sites almost always caused aberrant splicing, but a small percentage of cases still showed normal splicing. In contrast, in silico predictions failed to accurately predict the effects, with unexpected aberrant splicing occurring in some cases. These findings suggest that deep intronic variants may have a greater impact than previously thought, highlighting the importance of accurate classification and follow-up for family members.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Legal
Pavel Votypka, Alice Krebsova, Patricia Norambuena-Poustkova, Petra Peldova, Stepanka Pohlova Kucerova, Marketa Kulvajtova, Petra Dohnalova, Matej Bilek, Veronika Stufka, Kristina Rucklova, Iva Grossova, Hanka Wuenschova, Terezia Tavacova, Jana Haskova, Marketa Seget'ova, Jakub Stocek, Andrea Gregorova, Veronika Zoubkova, Jana Petrkova, Martin Dobias, Michal Makusa, Alzbeta Blankova, David Vajtr, Hynek Rehulka, Ivan Subrt, Alexander Pilin, Petr Tomasek, Jan Janousek, Josef Kautzner, Milan Macek
Summary: This study analyzed 100 Sudden Cardiac Death (SCD) cases and identified pathogenic or likely pathogenic variants in 22 cases. Additionally, the study revealed 83 relatives at risk of SCD through cardiological and genetic screening. These findings highlight the clinical importance of genetic testing and family screening in the diagnosis and risk assessment of SCD. The establishment of a national collaboration group is crucial for further development of these diagnostic tests.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2023)
Review
Genetics & Heredity
Li Fan, Ping Yin, Zuojun Xu
Summary: Sudden death in young adults can result from genetic and environmental factors, requiring an understanding of genetic etiology for prevention. The causes of sudden death are complex and varied, with genetic risk factors playing a significant role.
Review
Medicine, General & Internal
Qinqin Wu, Fanghui Li, Yu Jia, Yi Liu, Rui Zeng
Summary: This study aims to compare the impact of different types of physical activity on the risk of sudden cardiac death through a systematic review and meta-analysis. The results will be disseminated through peer-reviewed publications, journals, academic conferences, and other forms of exchange.
Article
Cardiac & Cardiovascular Systems
Juan P. Hernandez del Rincon, Mari C. Olmo Conesa, Ana Rodriguez Serrano, Helena Garcia Pulgar, David Lopez Cuenca, Carmen Munoz Esparza, Marina Navarro Penalver, Juan Jose Santos Mateo, Elisa Nicolas Rocamora, Cristina Gil Ortuno, Maria Sabater-Molina, Juan Ramon Gimeno Blanes, Francisco Pastor Quirante
Summary: Inherited cardiovascular diseases are a major cause of sudden cardiac death, but the prevention rate remains low at 35.6%. Among resuscitated cases, female sex and channelopathies were more prevalent, with 60.4% of patients achieving good neurological recovery.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Multidisciplinary Sciences
Ke Gong, Kai Yang, Ting Xie, Yong Luo, Hui Guo, Zhiping Tan, Jinlan Chen, Qin Wu, Yibo Gong, Luyao Wei, Jinwen Luo, Yao Yao, Yifeng Yang, Li Xie
Summary: By analyzing gene expression files in the GEO database, this study identified differentially expressed circRNAs, miRNAs, and mRNAs in HCM, and predicted the target molecules of circRNAs and miRNAs. A ceRNA network was constructed by calculating the intersection of these differentially expressed RNA molecules and their expected targets. Functional enrichment analysis revealed the potential etiology of HCM, which is associated with calcium channel release. The qPCR results showed differential expression levels of circRNA, miRNA, and mRNA, suggesting their potential as noninvasive indicators for early screening and prognostic prediction of HCM.
Article
Pharmacology & Pharmacy
Michael Spartalis, Panteleimon Pantelidis, Christos Kontogiannis, Stavroula A. Paschou, Eleftherios Spartalis, Dimitrios C. Iliopoulos, Gerasimos Siasos
Summary: Coronary artery disease, autonomic neuropathy, and diabetic cardiomyopathy are common cardiovascular complications of diabetes. However, diabetes also affects the heart's electrical conduction system, leading to lethal arrhythmias and sudden cardiac death. Arrhythmias in diabetes can be induced by hypoglycemia, hyperglycemia, glucose fluctuations, structural remodeling, and mitochondrial dysfunction.
CURRENT PHARMACEUTICAL DESIGN
(2022)
Article
Cardiac & Cardiovascular Systems
Min Ye, Jing-Wei Zhang, Jia Liu, Ming Zhang, Feng-Juan Yao, Yun-Jiu Cheng
Summary: The dynamic change of QTc interval is associated with increased mortality risk in the general population, with higher or lower Delta QTcF values being linked to various mortality endpoints. Monitoring QTc interval dynamically may provide additional prognostic information.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Curt J. Daniels, Saurabh Rajpal, Joel T. Greenshields, Geoffrey L. Rosenthal, Eugene H. Chung, Michael Terrin, Jean Jeudy, Scott E. Mattson, Ian H. Law, James Borchers, Richard Kovacs, Jeffrey Kovan, Sami F. Rifat, Jennifer Albrecht, Ana I. Bento, Lonnie Albers, David Bernhardt, Carly Day, Suzanne Hecht, Andrew Hipskind, Jeffrey Mjaanes, David Olson, Yvette L. Rooks, Emily C. Somers, Matthew S. Tong, Jeffrey Wisinski, Jason Womack, Carrie Esopenko, Christopher J. Kratochvil, Lawrence D. Rink
Summary: In this study of 1597 competitive athletes in the US who underwent CMR screening after COVID-19 infection, 37 athletes (2.3%) were diagnosed with clinical and subclinical myocarditis. There was variability in prevalence across universities, and testing protocols were closely associated with the detection of myocarditis. The unique CMR imaging data highlight the need for standardized timing and interpretation of cardiac testing for safe return to play in athletes.
Article
Medicine, General & Internal
So Yeon Kong, Eujene Jung, Seung-sik Hwang, Young Sun Ro, Sang Do Shin, Kyoung-chul Cha, Sung Oh Hwang
Summary: We conducted a meta-analysis on prospective cohort studies and found that lower circulating vitamin D levels significantly increased the risk of sudden cardiac death (SCD) and cardiovascular disease (CVD) mortality.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2023)
Article
Cardiac & Cardiovascular Systems
Juha H. Vaehaetalo, Lauri T. A. Holmstroem, Katri Pylkaes, Sini Skarp, Katja Porvari, Lasse Pakanen, Kari S. Kaikkonen, Juha S. Perkioemaeki, Risto Kerkelae, Heikki V. Huikuri, Robert J. Myerburg, M. Juhani Junttila
Summary: This study aims to investigate the genetic background of cardiac hypertrophy in sudden cardiac death (SCD) victims with single vessel coronary artery disease (CAD). The study found that rare variants associated with cardiomyopathies were common among SCD victims with single vessel disease and myocardial hypertrophy, suggesting that these variants may increase the risk for fatal arrhythmias and SCD.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Cardiac & Cardiovascular Systems
Carmine Zoccali, Francesca Mallamaci, Marcin Adamczak, Rodrigo Bueno de Oliveira, Ziad A. Massy, Pantelis Sarafidis, Rajiv Agarwal, Patrick B. Mark, Peter Kotanko, Charles J. Ferro, Christoph Wanner, Michel Burnier, Raymond Vanholder, Andrzej Wiecek
Summary: Chronic kidney disease (CKD) is a progressive condition that increases the risk of cardiovascular diseases. Traditional and non-traditional risk factors contribute to the progression of cardiovascular complications in CKD patients. Arterial disease in CKD patients is characterized by calcification and vascular stiffness. Recent clinical trials have shown promising potential treatments for CKD patients, including hypoxia-inducible factor prolyl hydroxylase inhibitors, intravenous iron for treating anemia, and sodium/glucose cotransporter-2 inhibitors. However, more research is needed in this area.
CARDIOVASCULAR RESEARCH
(2023)
Review
Medicine, General & Internal
Vincenzo Castiglione, Martina Modena, Alberto Aimo, Enrica Chiti, Nicoletta Botto, Simona Vittorini, Benedetta Guidi, Giuseppe Vergaro, Andrea Barison, Andrea Rossi, Claudio Passino, Alberto Giannoni, Marco Di Paolo, Michele Emdin
Summary: Molecular autopsy is the process of investigating sudden death through genetic analysis, particularly useful in cases where traditional autopsy does not provide conclusive answers. The adoption of next-generation sequencing technology has increased the detection rate of pathogenic variants and discovered new genotype-phenotype associations, but has also brought challenges in interpreting the large number of variants of unknown significance.
