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)
Review
Cardiac & Cardiovascular Systems
Shaurya Srivastava, Majid Yavari, Abdullah Al-abcha, Sandeep Banga, George Abela
Summary: LVNC is a rare and unclassified cardiomyopathy that can lead to heart failure, arrhythmias, and embolic events in adults. Diagnosis is based on various imaging criteria, but there is no standardized diagnostic criteria. Previous studies have shown that LVNC may present in different forms, requiring individualized treatment strategies.
HEART FAILURE REVIEWS
(2022)
Article
Cardiac & Cardiovascular Systems
Valtteri Muroke, Mikko Jalanko, Jari Haukka, Juha Sinisalo
Summary: This study aimed to evaluate the long-term mortality and cause-specific mortality of patients with atrial septal defect (ASD) in a nationwide cohort. The results showed that patients with ASD had higher overall mortality, with increased cause-specific mortality in congenital malformations, stroke, and heart diseases.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Review
Oncology
Jiali Cao, Qichang Wu, Yanru Huang, Lingye Wang, Zhiying Su, Huiming Ye
Summary: Congenital heart disease (CHD) is a common structural birth defect worldwide, with the etiology of most cases remaining unknown. Increasing evidence suggests that aberrant DNA methylation may be related to CHD.
CLINICAL EPIGENETICS
(2021)
Article
Biochemistry & Molecular Biology
Jingjing Liu, Yuduo Wu, Hairui Sun, Xiaowei Liu, Xiaoyan Gu, Ye Zhang, Ying Zhao, Jiancheng Han, Yihua He
Summary: This study investigated the association between prenatal placental DNA methylation and congenital heart disease (CHD). Through differential methylation analysis, several genes and pathways related to heart development and disease were identified. These findings suggest that placental tissue's DNA methylation level is closely associated with fetal CHD.
MOLECULAR GENETICS AND GENOMICS
(2023)
Review
Cardiac & Cardiovascular Systems
Patryk Leczycki, Maciej Banach, Marek Maciejewski, Agata Bielecka-Dabrowa
Summary: In recent decades, there has been a significant increase in the number of adults with congenital heart diseases (ACHD), necessitating thorough evaluation of their current condition. There is currently a lack of universal parameters or scales to easily assess the deterioration of ACHD patients' condition, emphasizing the need to identify widely available, cost-effective, and user-friendly factors. Studies have shown potential prognostic factors including echocardiography and magnetic resonance imaging, cardiopulmonary exercise testing, and biomarkers. However, further research is needed to create a specific assessment panel for patients with specific congenital heart diseases.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Nursing
Elizabeth Bichard, Stephen McKeever, Suzanne Bench, Jo Wray
Summary: This study explores the perceptions of siblings in the UK during the COVID-19 pandemic, regarding having a brother or sister with congenital heart disease. Interviews with 17 siblings aged 8-17 years revealed concerns about their sibling's vulnerability, family impact, and their responsibility to protect their sibling. Siblings made adjustments to keep their family functioning and valued increased family cohesion as a mitigating factor for the challenges posed by the pandemic.
JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES
(2022)
Article
Cell Biology
Si-Qiang Zheng, Huan-Xin Chen, Xiao-Cheng Liu, Qin Yang, Guo-Wei He
Summary: This study identified novel variants in the ISL1 gene promoter region and demonstrated that these variants may affect ISL1 protein expression, leading to the formation of VSDs.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2021)
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
Multidisciplinary Sciences
Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K. Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Baran, Leman Sencar, Nukte Goc, Yanki Yarman, A. Gulhan Ercan-Sencicek, Kaya Bilguvar, Richard P. Lifton, Jennifer Moliterno, Angeliki Louvi, Shiaulou Yuan, Engin Deniz, Martina Brueckner, Murat Gunel
Summary: In this study, somatic variants of the TRAF7 gene were found to be responsible for anterior skull-base meningiomas, while inherited mutations of TRAF7 were identified to cause congenital heart defects. The dominant effect of TRAF7 mutants was demonstrated, as they inhibited protein function by heterodimerizing with wild-type protein. The common genetic origin of the two different pathologies was traced back to the TRAF7-expressing neural crest, which gives rise to forebrain meninges and the cardiac outflow tract. Somatic and inherited mutations disrupted TRAF7-IFT57 interactions, leading to cilia degradation. The lack of cilia in TRAF7-mutant meningioma primary cultures and the development of cardiac, craniofacial, and ciliary defects in Xenopus and zebrafish upon TRAF7 knockdown suggest a mechanistic convergence between TRAF7-driven meningiomas and developmental heart defects.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Health Care Sciences & Services
Daniel A. Rossignol, Richard E. Frye
Summary: Research suggests that B12 treatment, particularly subcutaneous injected methylcobalamin, may improve metabolic abnormalities and clinical symptoms in individuals with ASD, such as communication skills, daily living abilities, and social skills. Further large-scale placebo-controlled studies are needed to confirm these findings.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Gastroenterology & Hepatology
Juliet Emamaullee, Sara Khan, Carly Weaver, Cameron Goldbeck, George Yanni, Rohit Kohli, Yuri Genyk, Shengmei Zhou, Nick Shillingford, Patrick M. Sullivan, Cheryl Takao, Jon Detterich, Paul F. Kantor, John D. Cleveland, Cynthia Herrington, S. Ram Kumar, Vaughn Starnes, Sarah Badran, Neil D. Patel
Summary: The study examined FALD in the young adult population post-Fontan surgery and identified non-invasive markers associated with bridging fibrosis. Bridging fibrosis was observed in 35% of patients within the first decade post-Fontan and was linked to worse survival. Changes in platelet counts, even years before biopsy, and APRI/FIB-4 scores had modest discriminatory power in identifying patients with advanced fibrosis. Steatosis may represent an additional risk factor for disease progression in obese patients. Further prospective studies are needed to develop strategies for screening FALD in adolescents.
Review
Medicine, General & Internal
Katarzyna Zych-Krekora, Oskar Sylwestrzak, Mariusz Grzesiak, Michal Krekora
Summary: Congenital heart defects are common and have a significant impact on morbidity and mortality in newborns. Providing comprehensive care, including cardiac check-ups, drug treatment, surgical interventions, rehabilitation, psychological support, and education, is crucial for children with CHD and their families.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Obstetrics & Gynecology
Yoshihito Morimoto, Kiyotaka Go, Hidenori Yamamoto, Yoshie Fukasawa, Michikazu Nakai, Eiji Morihana, Kazushi Yasuda, Hiroshi Nishikawa, Naoki Ohashi, Yoshiyuki Takahashi, Taichi Kato
Summary: This study investigated the proportion of infants born through ART in different types of CCHD in a Japanese population and found that the proportion of ART in CCHD infants, especially UVH, was high. These findings could provide a rationale for conducting fetal echocardiography in fetuses conceived through ART.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Cardiac & Cardiovascular Systems
Filip Eckerstrom, Camilla Nyboe, Marie Maagaard, Andrew Redington, Vibeke Elisabeth Hjortdal
Summary: This study described the survival of patients with isolated congenital ventricular septal defect (VSD) and compared it with the general population. The results showed that patients with VSD had lower survival rates and increased mortality risks.
EUROPEAN HEART JOURNAL
(2023)
Review
Clinical Neurology
Reymundo Lozano, Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D. Buxbaum, Alexander Kolevzon
Summary: FOXP1 syndrome is a neurodevelopmental disorder characterized by mutations or deletions in the FOXP1 gene, resulting in intellectual disability, language deficits, autism spectrum disorder, hypotonia, and various congenital anomalies. Clinical studies have elucidated the role of FOXP1 in neurodevelopment and provide recommendations for the assessment of FOXP1 syndrome.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2021)
Article
Cardiac & Cardiovascular Systems
Joseph Mahgerefteh, Wyman Lai, Steven Colan, Felicia Trachtenberg, Russel Gongwer, Mario Stylianou, Aarti H. Bhat, David Goldberg, Brian McCrindle, Peter Frommelt, Ritu Sachdeva, Jacqueline Marie Shuplock, Christopher Spurney, Dongngan Troung, James F. Cnota, Joseph A. Camarda, Jami Levine, Ricardo Pignatelli, Karen Altmann, Mary van der Velde, Poonam Punjwani Thankavel, Shahryar Chowdhury, Shubhika Srivastava, Tiffanie R. Johnson, Leo Lopez
Summary: This study aimed to develop height-based normalization models for cardiovascular measurements and compare them to body surface area (BSA)-based normalization. The results showed that height-based normalization led to higher cardiovascular Z-scores in heavier children, while BSA-based normalization resulted in higher cardiovascular Z-scores in lighter children.
PEDIATRIC CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Simone Jhaveri, Alejandro Berenstein, Shubhika Srivastava, Tomoyoshi Shigematsu, Miwa K. Geiger
Summary: Vein of Galen aneurysmal malformation (VGAM) is a rare anomaly associated with poor outcomes such as high output cardiac failure and neurologic complications. Non-survivors of VGAM more commonly exhibit right ventricular dysfunction, significant tricuspid regurgitation, and elevated combined cardiac index. Fetal brain MRI showing parenchymal damage is associated with higher combined cardiac index in VGAM cases.
PEDIATRIC CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Dongngan T. Truong, Felicia L. Trachtenberg, Gail D. Pearson, Audrey Dionne, Matthew D. Elias, Kevin Friedman, Kerri H. Hayes, Lynn Mahony, Brian W. McCrindle, Matthew E. Oster, Victoria Pemberton, Andrew J. Powell, Mark W. Russell, Lara S. Shekerdemian, Mary Beth Son, Michael Taylor, Jane W. Newburger
Summary: The MUSIC study aims to characterize the frequency and time course of acute and long-term cardiac and non-cardiac sequelae in children with MIS-C associated with COVID-19. The study will enroll at least 600 patients under 21 years old across North American centers, collecting detailed hospital and follow-up data for up to 5 years. This research will provide important insights into the acute and long-term effects of MIS-C.
AMERICAN HEART JOURNAL
(2022)
Letter
Cardiac & Cardiovascular Systems
Neha Ahluwalia, Kenan W. D. Stern, Ira A. Parness, Irene D. Lytrivi, Shubhika Srivastava
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2021)
Review
Cardiac & Cardiovascular Systems
Jeffrey P. Jacobs, Rodney C. G. Franklin, Marie J. Beland, Diane E. Spicer, Steven D. Colan, Henry L. Walters III, Frederique Bailliard, Lucile Houyel, James D. St. Louis, Leo Lopez, Vera D. Aiello, J. William Gaynor, Otto N. Krogmann, Hiromi Kurosawa, Bohdan J. Maruszewski, Giovanni Stellin, Paul Morris Weinberg, Marshall Lewis Jacobs, Jeffrey R. Boris, Meryl S. Cohen, Allen D. Everett, Jorge M. Giroud, Kristine J. Guleserian, Marina L. Hughes, Amy L. Juraszek, Stephen P. Seslar, Charles W. Shepard, Shubhika Srivastava, Andrew C. Cook, Adrian Crucean, Lazaro E. Hernandez, Rohit S. Loomba, Lindsay S. Rogers, Stephen P. Sanders, Jill J. Savla, Elif Seda Selamet Tierney, Justin T. Tretter, Lianyi Wang, Martin J. Elliott, Constantine Mavroudis, Christo I. Tchervenkov
Summary: Substantial progress has been made in standardizing the nomenclature for paediatric and congenital cardiac care, with the International Paediatric and Congenital Cardiac Code (IPCCC) now being a component of the Eleventh Revision of the International Classification of Diseases (ICD-11) worldwide. The collaboration between ISNPCHD and WHO has resulted in the harmonization of clinical and administrative nomenclature in the field, with a total of 367 paediatric and congenital cardiac terms now included in ICD-11.
WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Dongngan T. Truong, Audrey Dionne, Juan Carlos Muniz, Kimberly E. McHugh, Michael A. Portman, Linda M. Lambert, Deepika Thacker, Matthew D. Elias, Jennifer S. Li, Olga H. Toro-Salazar, Brett R. Anderson, Andrew M. Atz, C. Monique Bohun, M. Jay Campbell, Maryanne Chrisant, Laura D'Addese, Kirsten B. Dummer, Daniel Forsha, Lowell H. Frank, Olivia H. Frosch, Sarah K. Gelehrter, Therese M. Giglia, Camden Hebson, Supriya S. Jain, Pace Johnston, Anita Krishnan, Kristin C. Lombardi, Brian W. McCrindle, Elizabeth C. Mitchell, Koichi Miyata, Trent Mizzi, Robert M. Parker, Jyoti K. Patel, Christina Ronai, Arash A. Sabati, Jenna Schauer, S. Kristen Sexson Tejtel, J. Ryan Shea, Lara S. Shekerdemian, Shubhika Srivastava, Jodie K. Votava-Smith, Sarah White, Jane W. Newburger
Summary: This study retrospectively analyzed the clinical characteristics and short-term outcomes of young individuals with suspected myocarditis after COVID-19 vaccination. The results showed that most cases of suspected myocarditis had a mild clinical course with rapid resolution of symptoms, and abnormal findings on cardiac MRI were frequent.
Article
Pediatrics
Carissa M. Baker-Smith, Erica Sood, Carol Prospero, Varsha Zadokar, Shubhika Srivastava
Summary: The study aimed to determine factors influencing the acceptance of telehealth by parents of children with heart disease and found that digital literacy was a determinant for telehealth acceptance. Telehealth was determined to be a reliable and usable means of healthcare delivery.
JOURNAL OF PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Himanshu Adlakha, Preeti Malik, Rakesh Donthula, Hari Rajagopal, Allen Kan, Shubhika Srivastava, Ruchika Karnik, Rajesh U. Shenoy
Summary: The study found that ACHD patients with elevated BMI have abnormal global longitudinal and circumferential strain. This finding may help identify a subset of patients with subclinical myocardial dysfunction as a target for lifestyle modification to prevent progression to cardiac dysfunction.
PROGRESS IN PEDIATRIC CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Daphney Kernizan, Shubhika Srivastava, Priya Nigam, Elaine M. Geary, Carissa Baker-Smith
Summary: This study retrospectively assessed the application of appropriate use criteria (AUC) for outpatient transthoracic echocardiography following telehealth visits. The findings indicate that most echocardiograms requested after telehealth visits were appropriate and no abnormal findings were detected in rarely appropriate cases.
PEDIATRIC CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Michael Di Maria, David J. Goldberg, Victor Zak, Chenwei Hu, Adam M. Lubert, Andreea Dragulescu, Andrew S. Mackie, Andrew McCrary, Angela Weingarten, Anitha Parthiban, Benjamin Goot, Bryan H. Goldstein, Carolyn Taylor, Christopher Lindblade, Christopher J. Petit, Christopher Spurney, David M. Harrild, Elaine M. Urbina, Eleanor Schuchardt, Gi Beom Kim, Ja Kyoung Yoon, Jamie N. Colombo, Matthew D. Files, Megan Schoessling, Peter Ermis, Pierre C. Wong, Ruchira Garg, Sara K. Swanson, Shaji C. Menon, Shubhika Srivastava, Thor Thorsson, Tiffanie R. Johnson, Usha S. Krishnan, Stephen M. Paridon, Peter C. Frommelt
Summary: The FUEL trial demonstrated that treatment with udenafil can significantly improve exercise capacity. This study aimed to investigate the effect of udenafil on echocardiographic measures of single ventricle function. The results showed that participants who received udenafil had significant improvements in some global and diastolic echo indices, suggesting improved pulmonary venous return and/or ventricular compliance.
CIRCULATION-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Kristian C. Becker, Jennifer Cohen, Jon D. Nyce, Jen Lie Yau, Santosh C. Uppu, Partho P. Sengupta, Shubhika Srivastava
Summary: Left ventricular vortex formation plays an important role in optimizing blood transport and minimizing energy loss. This study examined vortex patterns and energy loss in children, especially those under 1 year old. The findings suggest that the growing heart undergoes a transition to adult vortex flow patterns over the first 2 years of life, with an acute increase in diastolic energy loss during the 2-month to 2-year period. These findings provide insight into the dynamic changes of left ventricular flow patterns in pediatric patients.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Article
Obstetrics & Gynecology
Bettina F. Cuneo, Jill P. Buyon, Lisa Sammaritano, Edgar Jaeggi, Bhawna Arya, Nicholas Behrendt, Julene Carvalho, Jennifer Cohen, Kristopher Cumbermack, Greggory DeVore, Tam Doan, Mary T. Donofrio, Lindsay Freud, Henry L. Galan, Melanie R. F. Gropler, Caitlin Haxel, Lisa K. Hornberger, Lisa W. Howley, Peter Izmirly, Stacy S. Killen, Michelle Kaplinski, Anita Krishnan, Stephanie Lavasseur, Christopher Lindblade, Jyothi Matta, Majd Makhoul, Jena Miller, Shaine Morris, Erin Paul, Erin Perrone, Colin Phoon, Nelangi Pinto, Jack Rychik, Gary Satou, Amit Saxena, Mark Sklansky, James Stranic, Janette F. Strasburger, Shubhika Srivastava, Sharda Srinivasan, Theresa Tacy, Wayne Tworetzky, Orhan Uzun, Simcha Yagel, Michael Zaretsky, Anita J. Moon-Grady
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Erin Faherty, Hari Rajagopal, Simon Lee, Barry Love, Shubhika Srivastava, Ira Parness, Santosh Uppu
Summary: This study examined the real-world applicability of transthoracic echocardiography in estimating the Qp/Qs ratio. The results showed poor correlation and agreement with oximetry-derived Qp/Qs, suggesting that this test is not effective in detecting hemodynamically significant shunt lesions.
ANNALS OF PEDIATRIC CARDIOLOGY
(2022)
Article
Pediatrics
Pnina G. Weiss, Alan Schwartz, Carol L. Carraccio, Bruce E. Herman, David A. Turner, Tandy Aye, Jill J. Fussell, Jennifer Kesselheim, John D. Mahan, Kathleen A. McGann, Angela Myers, Diane E. J. Stafford, Patricia R. Chess, Megan L. Curran, Christiane E. L. Dammann, Pamela High, Deborah C. Hsu, Sarah Pitts, Cary Sauer, Shubhika Srivastava, Richard B. Mink
Summary: The study shows that pediatric fellowship graduates may need ongoing development of skills, especially in clinical and nonclinical areas. Graduation readiness must be based on clear requirements to ensure alignment with regulatory standards.
