Article
Acoustics
C. Vedel, T. D. Hjortshoj, D. S. Jorgensen, A. Tabor, L. Rode, K. Sundberg, C. K. Ekelund, O. B. Petersen
Summary: This study aimed to estimate the prevalence of chromosomal conditions in fetuses and children with major congenital heart defect (CHD) in Denmark from 2008 to 2018. Through data review, the prevalence of chromosomal conditions in CHD patients was found to be 12.9%, varying according to different CHD diagnoses and associated extracardiac malformations. These findings are important for prenatal counseling.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Obstetrics & Gynecology
Lena Sagi-Dain, Amihood Singer, Reeval Segel, Racheli Berger, Bibi Kanengisser-Pines, Idit Maya
Summary: The study found that the residual risk of clinically significant chromosomal microarray analysis results in pregnancies with fetuses with congenital heart defects following normal noninvasive prenatal screening was higher than those in pregnancies with normal ultrasound. The detection rate of noninvasive prenatal screening varied depending on the type of congenital heart defect, with higher risks in certain subtypes. It is important for obstetricians and genetic counselors to consider this information when deciding on diagnostic testing options.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Genetics & Heredity
Katarzyna Kowalczyk, Magdalena Bartnik-Glaska, Marta Smyk, Izabela Plaskota, Joanna Bernaciak, Marta Kedzior, Barbara Wisniowiecka-Kowalnik, Krystyna Jakubow-Durska, Natalia Braun-Walicka, Artur Barczyk, Maciej Geremek, Jennifer Castaneda, Anna Kutkowska-Kazmierczak, Pawel Wlasienko, Marzena Debska, Anna Kucinska-Chahwan, Tomasz Roszkowski, Szymon Kozlowski, Boyana Mikulska, Tadeusz Issat, Ewa Obersztyn, Beata Anna Nowakowska
Summary: Congenital heart defects are common in newborns, and array comparative genomic hybridization is recommended as the first-line test for prenatal diagnosis of fetal heart defects. This method can help identify pathogenic variants and genetic loci associated with heart defects.
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
Genetics & Heredity
Sarah Okashah, Dhanya Vasudeva, Aya El Jerbi, Houssein Khodjet-El-Khil, Mashael Al-Shafai, Najeeb Syed, Marios Kambouris, Sharda Udassi, Luis R. Saraiva, Hesham Al-Saloos, Jai Udassi, Kholoud N. Al-Shafai
Summary: Congenital heart disease (CHD) is a common birth defect worldwide, often caused by genetic defects. A study in Qatar investigated the genetic causes of CHD and found associations with chromosomal abnormalities and genetic variants. The study identified several potential genetic variants contributing to CHD and suggests the need for further functional studies.
Article
Cardiac & Cardiovascular Systems
Jens Johansson Ramgren, Igor Zindovic, Shahab Nozohoor, Ronny Gustafsson, Nina Hakacova, Johan Sjogren
Summary: This study compared the outcomes of surgical repair in patients with nonsyndromic complete atrioventricular septal defect with and without concomitant complex cardiac anatomy. The results showed that patients without complex cardiac anatomy had good long-term survival and acceptable risk of reoperation, while patients with complex cardiac anomalies still had a higher risk of mortality.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Immunology
Yaara Kahan, Samantha G. Tope, Adi Ovadia, Adi Shpring, Rachel Shatzman-Steuerman, Gilad Sherman, Galia Barkai, Avigdor Mandelberg, Keren Armoni-Domany, Diana Tasher
Summary: This retrospective case-control study investigated the epidemiology, clinical characteristics, and risk factors for candidemia in pediatric patients with congenital heart defects (CHD) after cardiac surgery. The incidence of candidemia was 6.3 episodes per 1000 admissions, with an attributable mortality of 28.5%. Non-albicans candida species, particularly fluconazole-resistant C. parapsilosis, were the most common pathogens. Risk factors for candidemia included cumulative antibiotic exposure, the need for total parenteral nutrition or peritoneal dialysis, male sex, and delayed sternal closure.
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Klas Berggren, Daniel Ryd, Einar Heiberg, Anthony H. Aletras, Erik Hedstrom
Summary: By combining phase-encoding undersampling with super-resolution neural networks, high-resolution fetal cine cardiac MR images can be achieved with shorter acquisition time, potentially improving the success rate of fetal MR imaging while maintaining image quality.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Medicine, General & Internal
Simin Zhang, Jingjing Wang, Yan Pei, Jijing Han, Xiaowei Xiong, Yani Yan, Juan Zhang, Yan Liu, Fangfei Su, Jinyu Xu, Qingqing Wu
Summary: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. CMA examination for CHDs is still necessary, as it can help identify the existence of fetal ECAs and specific cardiac phenotypes, which are helpful for genetic counseling and prenatal diagnosis.
Review
Biochemistry & Molecular Biology
Federica Conte, Juda-El Sam, Dirk J. Lefeber, Robert Passier
Summary: Heart failure (HF) is a progressive chronic disease that affects over 64 million patients worldwide. It can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. This systematic review provides a comprehensive overview of inherited metabolic disorders (IMDs) linked to carbohydrate metabolism that present with cardiomyopathies, arrhythmogenic disorders, and/or structural cardiac defects. Through this review, we aim to raise awareness about the cardiac presentations in carbohydrate-linked IMDs and draw attention to carbohydrate-linked pathogenic mechanisms contributing to cardiac complications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Radiology, Nuclear Medicine & Medical Imaging
Akito Hiraoka, Rolf Symons, Julie A. Bogaert, Pedro Morais, Alexander Van De Bruaene, Werner Budts, Jan Bogaert
Summary: This study evaluated the impact of left-to-right shunt in type II atrial septal defect patients on left and right ventricular volumes, function, and strain using cardiovascular magnetic resonance imaging. The findings showed that the shunt resulted in RV overfilling, LV underfilling, and impaired systolic RV performance associated with longitudinal dysfunction of the interventricular septum.
EUROPEAN RADIOLOGY
(2021)
Article
Biology
Sathiyanarayanan Manivannan, Corrin Mansfield, Xinmin Zhang, Karthik M. Kodigepalli, Uddalak Majumdar, Vidu Garg, Madhumita Basu
Summary: Congenital heart disease (CHD) is a common birth defect linked to genetic variations and environmental exposures. Maternal pregestational diabetes is associated with an increased risk of CHD in offspring, but the causal mechanisms in early embryonic development are poorly understood. This study used a mouse model to uncover the transcriptional responses in developing hearts exposed to maternal hyperglycemia (matHG) and found that matHG affects cardiomyocyte differentiation and the expression of lineage-specific genes, increasing the risk of CHD.
COMMUNICATIONS BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Monal Yu-Hsuan Chang, Yan-De Liou, Jou-Hsuan Huang, Chia-Hung Su, Shu-Chien Huang, Ming-Tai Lin, Shyh-Jye Chen
Summary: This study aims to introduce the image characteristics of double-chambered right ventricle on cardiac computed tomography and establish a diagnostic criterion. The right ventricular constrictive ratio was found to be a valuable asset for the preoperative diagnosis of double-chambered right ventricle.
SCIENTIFIC REPORTS
(2022)
Article
Obstetrics & Gynecology
Samantha Kegel, Paola Abi Habib, Lindsey Seger, Ozhan M. Turan, Sifa Turan
Summary: This study investigated the relationship between gestational age at diagnosis and reproductive choices in fetuses with single-ventricle cardiac defects. The results indicated that termination of pregnancy was more common when the defect was diagnosed earlier in pregnancy, as early diagnosis enables parents to make deliberate and informed decisions.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2023)
Article
Clinical Neurology
Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa M. Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena A. Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Y. Gulec, Yunyun Jiang, Sandra A. Darilek, Adam W. Hansen, Michael M. Khayat, Davut Pehlivan, Juliette Piard, Donna M. Muzny, Neil Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep C. Akdemir, Adekunle M. Adesina, Shan Chen, Yi-Chien Lee, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2018)
Review
Genetics & Heredity
Maureen Handoko, Lisa T. Emrick, Jill A. Rosenfeld, Xia Wang, Alyssa A. Tran, Alicia Turner, John W. Belmont, Brendan H. Lee, Carlos A. Bacino, Hsiao-Tuan Chao
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Article
Biochemistry & Molecular Biology
Alexander H. Li, Neil A. Hanchard, Mahshid Azamian, Lisa C. A. D'Alessandro, Zeynep Coban-Akdemir, Keila N. Lopez, Nancy J. Hall, Heather Dickerson, Annarita Nicosia, Susan Fernbach, Philip M. Boone, Tomaz Gambin, Ender Karaca, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Harshavardhan Doddapaneni, Jianhong Huy, Huyen Dinh, Joy Jayaseelan, Donna Muzny, Seema Lalani, Jeffrey Towbin, Daniel Penny, Charles Fraser, James Martin, James R. Lupski, Richard A. Gibbs, Eric Boerwinklels, Stephanie M. Ware, John W. Belmont
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Article
Oncology
Philip J. Lupo, Austin L. Brown, Vidal M. Arroyo, Kala Y. Kamdar, John W. Belmont, Michael E. Scheurer, Wendy M. Leisenring, M. Monica Gramatges, M. Fatih Okcu, Yutaka Yasui, Kevin C. Oeffinger, Leslie L. Robison, Gregory T. Armstrong, Smita Bhatia
GENES CHROMOSOMES & CANCER
(2019)
Article
Genetics & Heredity
Nina Gonzaludo, John W. Belmont, Vladimir G. Gainullin, Ryan J. Taft
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Lisa T. Emrick, Jill A. Rosenfeld, Seema R. Lalani, Mahim Jain, Nilesh K. Desai, Austin Larson, Kimberly Kripps, Adeline Vanderver, Ryan J. Taft, Krista Bluske, Denise Perry, Honey Nagakura, LaDonna L. Immken, Lindsay C. Burrage, Carlos A. Bacino, John W. Belmont, Brendan Lee
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn Brown, Krista Bluske, Nicole J. Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan Lajoie, Amirah Khouzam, Shimul Chowdhury, John Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael Eberle, R. Tanner Hagelstrom, David R. Bentley, Denise L. Perry, Ryan J. Taft
GENETICS IN MEDICINE
(2019)
Editorial Material
Biochemistry & Molecular Biology
Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, Richard A. Gibbs, A. Micheil Innes, Olaf Riess, John Belmont, Sally L. Dunwoodie, Nebojsa Jojic, Timo Lassmann, Deborah Mackay, I. Karen Temple, Axel Visel, Gareth Baynam
Correction
Genetics & Heredity
Nina Gonzaludo, John W. Belmont, Vladimir G. Gainullin, Ryan J. Taft
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Alicia Scocchia, Kristen M. Wigby, Diane Masser-Frye, Miguel Del Campo, Carolina Galarreta, Erin Thorpe, Julia McEachern, Keisha Robinson, Andrew Gross, Subramanian S. Nay, Vani Rajan, Denise L. Perry, John W. Belmont, David R. Bentley, Marilyn C. Jones, Ryan J. Taft, Maren Bennett, Krista Bluske, Carolyn M. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Amanda R. Clause, Alison J. Coffey, Maria Laura Cremona, Vlad Gainullin, R. Tanner Hagelstrom, Alka Malhotra, Maya Rajan, Revathi Rajkumar, Sarah Schmidt
NPJ GENOMIC MEDICINE
(2019)
Article
Genetics & Heredity
Katharina Schulze, Amit Bhatt, Mahshid S. Azamian, Nathan C. Sundgren, Gladys E. Zapata, Patricia Hernandez, Karin Fox, Jeffrey R. Kaiser, John W. Belmont, Neil A. Hanchard
GENETICS IN MEDICINE
(2019)
Article
Genetics & Heredity
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Review
Genetics & Heredity
Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm
Summary: Whole genome sequencing (WGS) has the potential to become a first-tier diagnostic test for patients with rare genetic disorders. However, there is a lack of standards for defining and implementing the best test. To address this issue, the Medical Genome Initiative formed a consortium of experts to publish best practice recommendations and improve the quality of clinical WGS.
NPJ GENOMIC MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
John W. Belmont
Summary: Hypoplastic left heart syndrome (HLHS) is a severe cardiovascular malformation and understanding its causes is crucial. Genetic analysis plays a significant role in HLHS research, but its complex etiology involves both single-gene and copy number variant (CNV) disorders, as well as lower penetrance and common variation. Integrating this knowledge into clinical diagnostics and effective prevention and treatment is a challenge for the future.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Meeting Abstract
Clinical Neurology
Maureen Handoko, Lisa Emrick, Jill Rosenfeld, Xia Wang, Alyssa Tran, Alicia Turner, John Belmont, Brendan Lee, Carlos Bacino, Hsiao-Tuan Chao