Article
Genetics & Heredity
Wei-Zhen Zhou, Wenke Li, Huayan Shen, Ruby W. Wang, Wen Chen, Yujing Zhang, Qingyi Zeng, Hao Wang, Meng Yuan, Ziyi Zeng, Jinhui Cui, Chuan-Yun Li, Fred Y. Ye, Zhou Zhou
Summary: This study developed an evidence-based knowledgebase of congenital heart disease (CHD) that provides comprehensive information on CHD-related genes and clinical manifestations. Through the integration of data from 1114 publications, it links 1124 susceptibility genes and 3591 variations to over 300 CHD types and related syndromes. The knowledgebase also includes functional annotations from 50 databases/tools to facilitate the interpretation of gene and variation effects on disease pathogenicity. A core CHD sub-network of 163 genes was extracted using a gene interaction network approach. Overall, CHDbase is a valuable resource for studying CHD susceptibilities.
GENOMICS PROTEOMICS & BIOINFORMATICS
(2023)
Article
Cardiac & Cardiovascular Systems
Guocheng Shi, Jihong Huang, Mingan Pi, Xinxin Chen, Xiaofeng Li, Yiqun Ding, Hao Zhang
Summary: The study found that the COVID-19 pandemic led to a significant decrease in total surgical volume and a change in case mix, which seems to be related to traffic restrictions. Follow-up through online medical services appeared to be an effective alternative to the conventional method.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Martin M. C. Chui, Christopher C. Y. Mak, Mullin H. C. Yu, Sandra Y. Y. Wong, Kin-Shing Lun, Tak-Cheung Yung, Anna K. Y. Kwong, Pak-Cheong Chow, Brian H. Y. Chung
Summary: A burden analysis of exome data from 245 patients revealed an excess of rare variants in conotruncal cardiac defect cases and identified several significant genes, including GATA6 and NOTCH1. Combining the results from other studies, FLT4, NOTCH1, and TBX1 were also found to be significant genes. Clinical testing should prioritize these genes for rare inherited and de novo variants.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Eleanor J. Ward, Serena Bert, Silvia Fanti, Kerri M. Malone, Robert T. Maughan, Christina Gkantsinikoudi, Fabrice Prin, Lia Karina Volpato, Anna Paula Piovezan, Gerard J. Graham, Neil P. Dufton, Mauro Perretti, Federica M. Marelli-Berg, Suchita Nadkarni
Summary: In this study, we demonstrate that neutrophil-driven placental inflammation leads to inadequate placental development and loss of barrier function. This results in maternal inflammatory monocyte migration to the embryonic heart, altering the composition of cardiac macrophages and tissue structure. This cardiac impairment continues into postnatal life, hindering normal tissue architecture and function.
Article
Biology
Chun-Ho Chan, Yin-Yu Lam, Nicodemus Wong, Lin Geng, Jilin Zhang, Virpi Ahola, Aman Zare, Ronald Adolphus Li, Fredrik Lanner, Wendy Keung, Yiu-Fai Cheung
Summary: This study reveals functional abnormalities in cardiomyocytes derived from Tetralogy of Fallot patients with DiGeorge syndrome, including impaired ventricular specification, altered cardiac gene expression, upregulated neural gene expression, and increased arrhythmogenicity. These findings are specific to patients with DiGeorge syndrome and have implications for their clinical outcomes.
COMMUNICATIONS BIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Adrianna Matos-Nieves, Sathiyanarayanan Manivannan, Uddalak Majumdar, Kim L. McBride, Peter White, Vidu Garg
Summary: The study identified disease-contributing genes potentially involved in congenital heart malformations in CHD patients through transcriptomic analysis of a mouse model. RNA sequencing data showed differentially expressed genes in the OFT malformation mouse model, including genes in Hif1 alpha, Tgf-beta, Hippo, and Wnt signaling pathways. Comparative analysis between mice and humans revealed an enrichment of damaging genetic variants related to dysregulated gene homologs in TOF patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Syed Shahyan Bakhtiyar, Sara Sakowitz, Konmal Ali, Nikhil L. Chervu, Arjun Verma, Ming-Sing Si, David D'Alessandro, Peyman Benharash
Summary: The study evaluates the survival rate after heart transplantation in adults with single and biventricular CHD and compares it to that of non-CHD transplant recipients. Single-ventricle physiology is associated with higher short-term mortality, but 10-year conditional survival is similar for biventricular CHD patients and most single-ventricle CHD patients, and notably better for biventricular CHD patients compared to non-CHD heart transplant recipients.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Robert S. Leigh, Mika J. Valimaki, Bogac L. Kaynak, Heikki J. Ruskoaho
Summary: Heart formation requires transcriptional regulators and fetal gene program. Missense variants of congenital heart disease (CHD) disrupt specific protein domains, leading to CHDs. Chemical screening, gene expression analysis, and in vitro study identified a TAF1 bromodomain inhibitor, which modulates cardiac transcription and reveals an epigenetically-driven CHD mechanism.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Obstetrics & Gynecology
Shannon L. Son, Lauren L. Hosek, Miranda C. Stein, Amanda A. Allshouse, Anna B. Catino, Arvind K. Hoskoppal, Daniel A. Cox, Kevin J. Whitehead, Ian M. Lindsay, Sean Esplin, Torri D. Metz
Summary: This retrospective longitudinal cohort study found an association between pregnancy and subsequent long-term adverse cardiovascular outcomes in individuals with congenital heart disease. These findings can provide important information for counseling and guidance of individuals with congenital heart disease who are considering pregnancy.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Fernando Trinidad, Floyd Rubonal, Ignacio Rodriguez de Castro, Ida Pirzadeh, Rabin Gerrah, Arash Kheradvar, Sandra Rugonyi
Summary: Congenital heart disease (CHD) affects a significant number of newborns and is caused by multiple factors. Abnormal blood flow during embryonic stages can lead to CHD. Studies using avian models provide valuable insights into the impact of blood flow on heart development and can help in improving diagnosis and treatment strategies.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Article
Cardiac & Cardiovascular Systems
Marie Gunthel, Karel van Duijvenboden, Jorn Jeremiasse, Maurice J. B. van den Hoff, Vincent M. Christoffels
Summary: Research shows that left ventricular volume overload may lead to upregulation of cardiac stress marker and induction of cell-cycle genes expression. However, this does not affect postnatal cell-cycle withdrawal of cardiomyocytes and other cell types in the ventricles.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2021)
Article
Cardiac & Cardiovascular Systems
Gregor O. Dovjak, Tim Zalewski, Elisabeth Seidl-Mlczoch, Patricia A. Ulm, Vanessa Berger-Kulemann, Michael Weber, Daniela Prayer, Gregor J. Kasprian, Barbara Ulm
Summary: The study found high rates of extracardiac anomalies (ECA) and structural brain anomalies (SBA) on fetal MRI in various types of congenital heart disease (CHD), which are already present from midgestation onward. Predominant SBA include anomalies of hindbrain-midbrain, dorsal prosencephalon development, and abnormal cerebrospinal fluid spaces.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Dan M. Dorobantu, Deborah Ridout, Katherine L. Brown, Warren Rodrigues, Mansour T. A. Sharabiani, Christina Pagel, David Anderson, Paul Wellman, Andrew McLean, Jane Cassidy, David J. Barron, Victor T. Tsang, Serban C. Stoica
Summary: Unplanned reintervention is a common complication after pediatric cardiac surgery, associated with factors like neonatal age, low weight, and heart structure, but not correlated with the surgical risk score. Higher mortality was observed in patients who experienced unplanned reintervention, especially when additional postoperative complications were present.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2021)
Article
Medicine, General & Internal
Aigli G. Vakrakou, Lykourgos Kolilekas, Niki Lama, Spiros Katsanos, Grigorios Stratakos, Ilias Tsougos, Effrosyni Manali, Eirini Grigoriou, Katherina Psarra, Constantinos Kilidireas, Spiros Papiris, Nikolaos L. Kelekis, Elias J. Gialafos
Summary: This study evaluated the distribution of immune cell subsets in the peripheral blood of patients with sarcoidosis and found that a low count of NK cells is associated with cardiac involvement, while the number of NK-T cells correlates with myocardial inflammation.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Cardiac & Cardiovascular Systems
Jacob C. Scherba, Ravi Karra, Joseph W. Turek, Nenad Bursac
Summary: Human cardiac organoid systems are of great importance for studying the mechanism of early heart development and gaining a better understanding of congenital cardiac disease.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Biochemistry & Molecular Biology
Ann Rose Bright, Siebe van Genesen, Qingqing Li, Alexia Grasso, Siebren Frolich, Maarten Van der Sande, Simon J. van Heeringen, Gert Jan C. Veenstra
Summary: The study revealed differences in chromatin accessibility and transcriptional activity in cells during gastrulation in Xenopus tropicalis, and identified head and trunk organizer cell clusters. By analyzing the activity of transcription factors in single-cell clusters, it was inferred how they cooperatively regulate gene expression in a combinatorial manner.
Article
Pediatrics
Aaron Wightman, Miranda C. Bradford, Evelyn Hsu, Heather L. Bartlett, Jodi M. Smith
Summary: The study revealed that children with intellectual disability make up 7%-9% of pediatric transplant recipients, with comparable long-term outcomes to other pediatric recipients. These findings offer important empirical support for policies that include children with intellectual disabilities as transplant candidates.
JOURNAL OF PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Craig S. Broberg, Adrienne H. Kovacs, Soraya Sadeghi, Marlon S. Rosenbaum, Matthew J. Lewis, Matthew R. Carazo, Fred H. Rodriguez, Dan G. Halpern, Jodi Feinberg, Francisca Arancibia Galilea, Fernando Baraona, Ari M. Cedars, Jong M. Ko, Prashob Porayette, Jennifer Maldonado, Berardo Sarubbi, Flavia Fusco, Alexandra A. Frogoudaki, Amiram Nir, Anisa Chaudhry, Anitha S. John, Arsha Karbassi, Arvind K. Hoskoppal, Benjamin P. Frischhertz, Benjamin Hendrickson, Berto J. Bouma, Carla P. Rodriguez-Monserrate, Christopher R. Broda, Daniel Tobler, David Gregg, Efren Martinez-Quintana, Elizabeth Yeung, Eric Krieger, Francisco J. Ruperti-Repilado, George Giannakoulas, George K. Lui, Georges Ephrem, Harsimran S. Singh, Hassan M. K. Almeneisi, Heather L. Bartlett, Ian Lindsay, Jasmine Grewal, Jeremy Nicolarsen, John J. Araujo, Jonathan W. Cramer, Judith Bouchardy, Khalid Al Najashi, Kristi Ryan, Laith Alshawabkeh, Lauren Andrade, Magalie Ladouceur, Markus Schwerzmann, Matthias Greutmann, Pablo Meras, Paolo Ferrero, Payam Dehghani, Poyee P. Tung, Rocio Garcia-Orta, Rose O. Tompkins, Salwa M. Gendi, Scott Cohen, Scott Klewer, Sebastien Hascoet, Shabnam Mohammadzadeh, Shailendra Upadhyay, Stacy D. Fisher, Stephen Cook, Timothy B. Cotts, Jamil A. Aboulhosn
Summary: COVID-19 mortality in adults with congenital heart disease (CHD) is similar to the general population. Factors associated with death include male sex, diabetes, cyanosis, pulmonary hypertension, renal insufficiency, and previous hospital admission for heart failure. Worse physiological stage is linked to mortality risk.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Heather L. Bartlett, Petros V. Anagnostopoulos
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Biochemistry & Molecular Biology
Quan Xu, Georgios Georgiou, Siebren Frolich, Maarten van der Sande, Gert Jan C. Veenstra, Huiqing Zhou, Simon J. van Heeringen
Summary: ANANSE is a network-based method that identifies key transcription factors in cell fate determination using enhancer-encoded regulatory information. By predicting genome-wide binding profiles of transcription factors in various cell types and constructing cell type-specific gene regulatory networks, it can predict key transcription factors controlling cell fate transitions.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Jan S. Fassler, Sydney Skuodas, Daniel L. Weeks, Bryan T. Phillips
Summary: Protein aggregation is a characteristic of many neurodegenerative diseases, but it can also regulate cellular activities such as stress response, gene expression, and cell development. This review explores examples of protein aggregates in biological systems and cellular strategies for controlling aggregation and disassembly.
JOURNAL OF MOLECULAR BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Chet H. Loh, Siebe van Genesen, Matteo Perino, Magnus R. Bark, Gert Jan C. Veenstra
Summary: The study reveals the critical role of PRC2 in embryonic development. PRC2.1 containing MTF2 plays a major role in balancing lineage-specific gene activation, while the contribution of PRC2 containing JARID2 is more selective compared to MTF2.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Camden Jansen, Kitt D. Paraiso, Jeff J. Zhou, Ira L. Blitz, Margaret B. Fish, Rebekah M. Charney, Jin Sun Cho, Yuuri Yasuoka, Norihiro Sudou, Ann Rose Bright, Marcin Wlizla, Gert Jan C. Veenstra, Masanori Taira, Aaron M. Zorn, Ali Mortazavi, Ken W. Y. Cho
Summary: Mesendodermal specification is a crucial process in embryogenesis, and understanding the gene regulatory networks (GRNs) involved in cell differentiation is challenging. In this study, the researchers developed a high-resolution mechanistic GRN using a combination of different types of gene sequencing data. They successfully identified known and previously unidentified gene interactions, providing insights into the transcriptional regulation of early cell fate decisions. This study also presents a general approach for building GRNs using highly dimensional multi-omic datasets.
Article
Engineering, Biomedical
Niels Harlaar, Sven O. Dekker, Juan Zhang, Rebecca R. Snabel, Marieke W. Veldkamp, Arie O. Verkerk, Carla Cofino Fabres, Verena Schwach, Lente J. S. Lerink, Mathilde R. Rivaud, Aat A. Mulder, Willem E. Corver, Marie Jose T. H. Goumans, Dobromir Dobrev, Robert J. M. Klautz, Martin J. Schalij, Gert Jan C. Veenstra, Robert Passier, Thomas J. van Brakel, Daniel A. Pijnappels, Antoine A. F. de Vries
Summary: Functional human atrial myocytes can be massively expanded via a conditional cell-immortalization method, and used in in vitro models of atrial fibrillation. This study successfully generated immortalized cell lines with properties resembling primary atrial myocytes, and used them to create in vitro models of atrial fibrillation, displaying fibrillatory activity consistent with clinical manifestations and responding to antiarrhythmic drugs.
NATURE BIOMEDICAL ENGINEERING
(2022)
Article
Cardiac & Cardiovascular Systems
Christopher R. Burke, Erik Lewis, Nicholas A. Schreiter, Heather Bartlett, Eric Krieger, Petros Anagnostopoulos, Edward D. Verrier, Joshua L. Hermsen
Summary: Pulmonary valve replacement with right ventricular outflow tract reconstruction using ECM patches can lead to patch dehiscence and complications such as paravalvular leak. Based on reported cases, it is recommended to avoid ECM in RVOT reconstruction with PVR and monitor patients repaired with ECM for potential complications.
WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY
(2022)
Article
Cell Biology
Emily D. Lavering, Irini N. Petros, Daniel L. Weeks
Summary: This article introduces a simplified method for the analysis of nucleolar protein compartmentalization, detailing nucleolar assembly, partitioning, staining, and morphological changes. It suggests the importance of these methods in understanding the nucleolus and phase separation studies.
DEVELOPMENT GROWTH & DIFFERENTIATION
(2022)
Article
Pharmacology & Pharmacy
Juliette Schefelker, Xiao Zhang, Ann Dodge, Kristen Marten, Greigory Dimailig, Heather L. Bartlett, Amy L. Peterson
Summary: This study evaluates the impact of the COVID-19 pandemic and subsequent social restrictions on pediatric cardiometabolic health factors. The results reveal concerning trends in markers of cardiovascular disease health, independent of changes in weight, in at-risk children during the recent COVID pandemic. The findings suggest that this vulnerable population may benefit from more frequent monitoring and intense management during such events.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Catherine C. Allen, Karoline Canada, Sarah Schlueter, Xiao Zhang, Heather Bartlett
Summary: Visceral hyperalgesia is common among children with complex medical conditions, with infants with complex congenital heart disease, specifically single ventricle interstage patients, often experiencing feeding intolerance and irritability. Treatment with gabapentin has shown promise for symptomatic improvement in some patients, based on a case series presented, but future multi-center prospective studies are needed for further evaluation.
PEDIATRIC CARDIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Maria V. Luna Velez, Hannah K. Neikes, Rebecca R. Snabel, Yarah Quint, Chen Qian, Aniek Martens, Gert Jan C. Veenstra, Michael R. Freeman, Simon J. van Heeringen, Michiel Vermeulen
Summary: In this study, a multi-omics approach was used to investigate the molecular mechanisms driving M cell differentiation in mouse small intestinal organoids. Cell type-specific regulatory elements and associated transcription factors were identified through chromatin accessibility changes and transcription factor dynamics. The transcription factor ONECUT2 was found to play a role in enterocyte differentiation and restrict M cell lineage specification.
NUCLEIC ACIDS RESEARCH
(2023)
Review
Genetics & Heredity
Chet H. Loh, Gert Jan C. Veenstra
Summary: Embryonic development is a complex process, regulated by PRC2 and its variant complexes. Recent research has uncovered the roles of different PRC2 proteins in cell fate and lineage specification.
