Article
Medicine, Research & Experimental
Hager Jaouadi, Chris Jopling, Fanny Bajolle, Alexis Theron, Adele Faucherre, Hilla Gerard, Sarab Al Dybiat, Caroline Ovaert, Damien Bonnet, Jean-Francois Avierinos, Stephane Zaffran
Summary: This study analyzed genetic variants in a cohort of BAV patients and found that only 10% of adult BAV patients had missense variants in ROBO and SLIT genes, while 61% of pediatric cases carried variants in these genes. Family segregation analysis showed that the ROBO4 gene variants followed an autosomal recessive pattern of inheritance. These findings suggest that the ROBO4 gene is not only implicated in BAV, but also in ToF.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Stephanie Ibrahim, Benedicte Gaborit, Marien Lenoir, Gwenaelle Collod-Beroud, Sonia Stefanovic
Summary: Congenital heart defects (CHDs), the most common form of birth defects in humans, are complex and difficult to understand. While genetic factors can explain only a minority of cases, environmental risk factors also contribute to the development of CHDs. Maternal pregestational diabetes is associated with an increased risk, but the specific molecular mechanisms remain unclear. This review summarizes key findings on the molecular mechanisms altered in cardiac development under hyperglycemic conditions, presents experimental modeling techniques, and suggests new approaches for understanding and prevention.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Tong Yi, Xiaoyan Hao, Hairui Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Ying Zhao, Yong Guo, Xiaoxue Zhou, Yihua He
Summary: CNV-seq and ES can provide valuable information for genetic evaluation of foetal CHDs. Nearly 1/3 of the foetal CHD cases were found to have genetic abnormalities. AVSD, LVOTO, and CTD were the most common CHD categories, and mutations in KMT2D, CHD7, and NOTCH1 were frequently observed.
Article
Cardiac & Cardiovascular Systems
Xuelian Yuan, Fengchao Liang, Jun Zhu, Keyong Huang, Li Dai, Xiaohong Li, Yanping Wang, Qi Li, Xiangfeng Lu, Jianfeng Huang, Lihui Liao, Yang Liu, Dongfeng Gu, Hanmin Liu, Fangchao Liu
Summary: This study investigated the association between maternal exposure to fine particulate matter (PM2.5) and fetal congenital heart defects (CHDs) in China. The results showed that higher maternal PM2.5 exposure, especially during the preconception period, increased the risk of certain types of CHDs in offspring. The findings highlight the importance of improving air quality in China and other highly polluted regions for CHD prevention.
Review
Health Care Sciences & Services
Olga Maria Diz, Rocio Toro, Sergi Cesar, Olga Gomez, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels, with genetic variants playing a key role. High-throughput genetic technologies can help identify pathogenic factors. Early diagnosis and personalized treatment are crucial due to the high incidence and associated complications.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Medicine, Research & Experimental
Lindsay J. Young, Steve Antwi-Boasiako, Joel Ferrall, Loren E. Wold, Peter J. Mohler, Mona El Refaey
Summary: This article reviews the tissue and cellular pathways of atrial fibrillation, explores the role of genetic and environmental risk factors in atrial fibrillation susceptibility, and provides the latest information on the potential link between SARS-CoV-2 and human atrial fibrillation. Improved understanding of the mechanisms underlying atrial fibrillation holds promise in preventative care and early diagnostics, as well as introducing novel targeted therapies for attenuating atrial fibrillation progression and maintenance.
Review
Obstetrics & Gynecology
Xiaolu Nie, Xiaohang Liu, Chen Wang, Zehao Wu, Zimo Sun, Jian Su, Ruohua Yan, Yaguang Peng, Yuxuan Yang, Chengrong Wang, Siyu Cai, Yali Liu, Huanling Yu, Qingqing Wu, Xiaoxia Peng, Chenghong Yin
Summary: This umbrella review comprehensively summarized the evidence on non-genetic risk factors of congenital heart defect (CHD) and found various factors, including family genetic history, maternal obesity, harmful chemicals, related to CHD. Sensitivity analysis based on cohort studies showed changes in evidence levels, indicating the importance of future research focusing on this aspect.
BMC PREGNANCY AND CHILDBIRTH
(2022)
Review
Biochemistry & Molecular Biology
Wenwen Wei, Xin Wang, Yuanzhong Zhou, Xuejun Shang, Hongsong Yu
Summary: Pregnancy-induced hypertension (PIH) is a severe pregnancy complication that can lead to maternal mortality. Various genetic factors have been shown to play an important role in the occurrence and development of PIH. This review summarizes the genetic risk factors involved in the renin-angiotensin system, endothelin system, inflammatory factors, oxidative stress, and other functional networks that may contribute to the pathogenesis of PIH.
Review
Cell Biology
Kavitha S. Rao, Vasumathi Kameswaran, Benoit G. Bruneau
Summary: Congenital heart defects are common birth defects with unknown causes. Recent development of experimental models, including mouse models and human cellular models, have helped to enhance our understanding of the molecular basis of these defects. The development of cardiac organoids also shows promise in creating more anatomically informative human models of congenital heart defects.
GENES & DEVELOPMENT
(2022)
Article
Cardiac & Cardiovascular Systems
Parag N. Jain, Katherine B. Salciccioli, Danielle Guffey, Jinyoung Byun, Timothy B. Cotts, Peter Ermis, Michael Gaies, Nancy Ghanayem, Francis Kim, Javier J. Lasa, Andrew Smith, Stephanie Fuller
Summary: This study analyzed the postoperative care of adults with congenital heart disease in pediatric cardiac intensive care units, finding that high complexity operations, previous sternotomies, preoperative arrhythmias, renal dysfunction, and respiratory failure are independent risk factors for prolonged length of stay and/or major complications.
ANNALS OF THORACIC SURGERY
(2022)
Article
Genetics & Heredity
Matteo Paolucci, Chiara Vincenzi, Michele Romoli, Giulia Amico, Isabella Ceccherini, Simona Lattanzi, Anna Bersano, Marco Longoni, Simona Sacco, Fabrizio Vernieri, Rosario Pascarella, Franco Valzania, Marialuisa Zedde
Summary: PFO is a common postnatal defect of cardiac atrial septation with potential familial aggregation. However, no genetic variants associated with PFO have been identified so far. Despite the need for further research, existing evidence from animal and other studies suggest a strong genetic background for PFO.
Article
Public, Environmental & Occupational Health
Xiao Jin, Wei Ni, Guolan Wang, Qin Wu, Jun Zhang, Guoju Li, Na Jiao, Wenjing Chen, Qing Liu, Li Gao, Quansheng Xing
Summary: This study conducted in Qingdao, China, found that congenital heart disease (CHD) is a serious health issue with a prevalence similar to existing research. The positive rate of prenatal CHD screening was higher than the incidence of neonatal CHD. Risk factors for CHD were identified in the study, which could have significant implications for developing CHD intervention strategies.
Article
Genetics & Heredity
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanidir, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan-Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Summary: The genome analysis study of CHD in consanguineous families in Turkey reveals a unique genetic architecture, where consanguinity has a strong contribution to laterality defects. This study provides valuable information about the genetic landscape of CHD in consanguineous families in Turkey.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Li Sun, Qianlan Wu, Huiying Wang, Juning Liu, Yan Shao, Rong Xu, Tian Gong, Xiaoju Peng, Baoli Zhang
Summary: This study investigates the association between maternal exposure to air pollutants and the risk of congenital heart defects in Suzhou, China. The results suggest that exposure to PM2.5 and NO2 is associated with an increased risk of CHDs.
FRONTIERS IN PUBLIC HEALTH
(2023)
Review
Biochemistry & Molecular Biology
Alejandro Junco-Vicente, Alvaro del Rio-Garcia, Maria Martin, Isabel Rodriguez
Summary: Bicuspid aortic valve (BAV) associated with aortopathy is a common congenital heart disease that is complex and heterogeneous in nature. While recent studies have identified genetic mutations and explored molecular alterations involved, the pathophysiology of the disease is still not fully understood. Further research is needed to find therapeutic targets for prevention and treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Rehabilitation
Allyson Thomson, Emma Glasson, Peter Roberts, Alan Bittles
DISABILITY AND REHABILITATION
(2017)
Editorial Material
Genetics & Heredity
Giovanni Romeo, Alan H. Bittles
Editorial Material
Genetics & Heredity
Giovanni Romeo, Alan H. Bittles
Article
Genetics & Heredity
Meimanat Hosseini-Chavoshi, Mohammad J. Abbasi-Shavazi, Alan H. Bittles
Article
Genetics & Heredity
Fabiana Moura Costa-Motta, Fernanda Bender, Angelina Acosta, Kiyoko Abe-Sandes, Taisa Machado, Thais Bomfim, Tatiana Boa Sorte, Danniel da Silva, Alan Bittles, Roberto Giugliani, Sandra Leistner-Segal
Article
Otorhinolaryngology
Gabrielle N. Manzoli, Kiyoko Abe-Sandes, Alan H. Bittles, Danniel S. D. da Silva, Luciene da C. Fernandes, Roberta M. C. Paulon, Iza Cristina S. de Castro, Carla M. C. A. Padovani, Angelina X. Acosta
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2013)
Editorial Material
Ethics
Allyson Thomson, Peter Roberts, Alan Bittles
JOURNAL OF MEDICAL ETHICS
(2014)
Editorial Material
Medicine, General & Internal
Alan H. Bittles
Article
Genetics & Heredity
Rolf Becker, Thomas Keller, Rolf-Dieter Wegner, Heidemarie Neitzel, Markus Stumm, Ute Knoll, Markus Staerk, Heiner Fangerau, Alan Bittles
PRENATAL DIAGNOSIS
(2015)
Article
Health Policy & Services
Matthew I. Bellgard, Mark W. Sleeman, Felix D. Guerrero, Sue Fletcher, Gareth Baynam, Jack Goldblatt, Yaffa Rubinstein, Callum Bell, Stephen Groft, Roberto Barrero, Alan H. Bittles, Stephen D. Wilton, Christopher E. Mason, Tarun Weeramanthri
HEALTH POLICY AND TECHNOLOGY
(2014)
Article
Demography
Nutan Kumari, Alan H. Bittles, Prem Saxena
JOURNAL OF BIOSOCIAL SCIENCE
(2020)
Article
Demography
A. H. Bittles, N. A. Small
JOURNAL OF BIOSOCIAL SCIENCE
(2016)
Article
Demography
Aftab Alam Sthanadar, Alan H. Bittles, Muhammad Zahid
JOURNAL OF BIOSOCIAL SCIENCE
(2014)
Article
Education, Special
E. J. Glasson, D. E. Dye, A. H. Bittles
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2014)
Editorial Material
Medicine, General & Internal
A. H. Bittles
JOURNAL OF THE ROYAL COLLEGE OF PHYSICIANS OF EDINBURGH
(2013)