CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth AA (PFAA). Demographic, clinical and outcome data were extracted and analyzed. A total of 68 studies (44 case reports and 24 case series; n=943 CS patients) were included. The prevalence of CHDs was 76.6%, patent ductus arteriosus 26%, ventricular 21%, atrial septal defects 18%, tetralogy of Fallot 11%, and aortic abnormalities 24%. PFAA has not been previously reported in CS. Cardiac surgery was performed in more than half of CS patients (150/242, 62%). The in-hospital mortality rate was about 9.5% (n=86/900) in case series studies and 12% (n=5/43) in case reports, including cardiovascular (CV) and non-CV causes. CHDs and feeding disorders associated with CS may have a substantial impact on prognosis. CHDs were usually associated with CS and represent important causes of morbidity and mortality. PFAA, although rare, may also be present. The prognosis is highly dependent on the presence of cardiac and non-cardiac developmental abnormalities. Further studies are needed to better identify the main causes of the long-term outcome of CS patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.4081/monaldi.2023.2661 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Safety and efficacy of tirofiban in the endovascular treatment of intracranial aneurysms: a systematic evaluation and meta-analysis.
Neurosurg Rev
January 2025
Hengyang Key Laboratory of Hemorrhagic Cerebrovascular Disease, Department of Neurosurgery, the Second Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang, 421000, Hunan, China.
Patients with intracranial aneurysms (IA) undergoing endovascular treatment face varying risks and benefits when tirofiban is used for thromboprophylaxis during surgery. Currently, there is a lack of high-level evidence summarizing this information. This study aims to conduct a systematic review and meta-analysis to evaluate the efficacy and safety of tirofiban during endovascular treatment of IA.
View Article and Find Full Text PDFCorrelations between postmortem quantitative MRI parameters and demyelination, axonal loss and gliosis in multiple sclerosis: A systematic review and meta-analysis.
Brain Imaging Behav
January 2025
Macquarie Medical School, Macquarie University, Sydney, NSW, Australia.
Magnetic resonance imaging (MRI) is frequently used to monitor disease progression in multiple sclerosis (MS). This study aims to systematically evaluate the correlation between MRI measures and histopathological changes, including demyelination, axonal loss, and gliosis, in the central nervous system of MS patients. We systematically reviewed post-mortem histological studies evaluating myelin density, axonal loss, and gliosis using quantitative imaging in MS.
View Article and Find Full Text PDFSystematic Review of Hybrid Vision Transformer Architectures for Radiological Image Analysis.
J Imaging Inform Med
January 2025
School of Computing, Informatics, and Decision Systems Engineering, Arizona State University, Tempe, AZ, USA.
Vision transformer (ViT)and convolutional neural networks (CNNs) each possess distinct strengths in medical imaging: ViT excels in capturing long-range dependencies through self-attention, while CNNs are adept at extracting local features via spatial convolution filters. While ViT may struggle with capturing detailed local spatial information, critical for tasks like anomaly detection in medical imaging, shallow CNNs often fail to effectively abstract global context. This study aims to explore and evaluate hybrid architectures that integrate ViT and CNN to leverage their complementary strengths for enhanced performance in medical vision tasks, such as segmentation, classification, reconstruction, and prediction.
View Article and Find Full Text PDFDiagnostic Accuracy of Artificial Intelligence for Detection of Rib Fracture on X-ray and Computed Tomography Imaging: A Systematic Review.
J Imaging Inform Med
January 2025
Department of Orthopedic Surgery, Arrowhead Regional Medical Center, Colton, CA, USA.
Rib pathology is uniquely difficult and time-consuming for radiologists to diagnose. AI can reduce radiologist workload and serve as a tool to improve accurate diagnosis. To date, no reviews have been performed synthesizing identification of rib fracture data on AI and its diagnostic performance on X-ray and CT scans of rib fractures and its comparison to physicians.
View Article and Find Full Text PDFEffectiveness of Poverty Reduction Programs on Psychological Development of Children and Adolescents at Risk of Poverty: A Systematic Review and Meta-analysis.
J Youth Adolesc
January 2025
Department of Social Work, the Chinese University of Hong Kong, Hong Kong, China.
Considering the potential detrimental impact of poverty on psychological development and the resulting harmful cycles, implementing poverty alleviation interventions is necessary for children and adolescents. Although several meta-analyses have demonstrated the effectiveness of monetary poverty reduction programs, there remains a significant gap in understanding how multidimensional poverty reduction strategies boost psychological development. This meta-analysis aims to address this gap by disclosing the impact of multifaceted anti-poverty interventions on the psychological development of children and adolescents.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!