Background: Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been found, the genetic factors of ASD remain unclear. This study aimed to evaluate the correlation between 10 candidate single nucleotide polymorphisms (SNPs) and sporadic atrial septal defects.
Methods: Based on the results of 34 individual whole exome sequences, 10 candidate SNPs were selected. In total, 489 ASD samples and 420 normal samples were collected. The 10 SNPs in the case group and the control group were identified through Snapshot genotyping technology. The χ2-test and unconditional regression model were used to evaluate the relationship between ASD and each candidate SNP. Haploview software was used to perform linkage disequilibrium and haplotype analysis.
Results: The χ2 results showed that the FLT4 rs383985 (P = 0.003, OR = 1.115-1.773), HYDIN rs7198975 (P = 0.04621, OR = 1.003-1.461), and HYDIN rs1774266 (P = 0.04621, OR = 1.003-1.461) alleles were significantly different between the control group and the case group (P < 0.05). Only the association with the FLT4 polymorphism was statistically significant after adjustment for multiple comparisons.
Conclusion: These findings suggest that a possible molecular pathogenesis associated with sporadic ASD is worth exploring in future studies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10998412 | PMC |
| http://dx.doi.org/10.1186/s13052-024-01630-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Purse string suture for rapid access hemostasis after removal of large-caliber femoral venous delivery sheaths in children with atrial septal defects.
BMC Cardiovasc Disord
January 2025
Heart Center, Women and Children's Hospital, Qingdao University, 6 Tongfu Road, Qingdao, 266034, Shandong, China.
Objectives: To evaluate the efficacy and safety of purse-string sutures (PSS) compared with manual compression for access hemostasis in children with atrial septal defects (ASDs) after large-caliber venous delivery sheaths removal.
Methods: We conducted a retrospective clinical data review of 271 children with ASDs who underwent transcatheter device closure through large-caliber venous delivery sheaths (≥ 8 Fr) at our institution from January 2018 to January 2023. The PSS group (n = 144) was compared to the control group (n = 127), which underwent manual compression for femoral venous hemostasis after sheath removal, focusing on hemostatic time, limb braking time, bed rest time, hospital stay, and vascular access complications.
An atrial septal defect (ASD) is a common congenital heart anomaly that results in irregular blood flow between the systemic and pulmonary circulations due to an opening in the atrial septum. Ostium secondum ASD accounts for a large proportion of these defects and often goes unnoticed during childhood and adolescence. Pulmonary hypertension (PH), affecting a significant number of patients with ostium secondum ASD, is associated with functional limitations, heart failure, and tachyarrhythmias.
View Article and Find Full Text PDFComparison of Cardiac Magnetic Resonance Imaging Findings and Prognostic Measures in Nondilated Cardiomyopathy and Dilated Cardiomyopathy.
Cardiol Res Pract
January 2025
Cardiovascular Research Center, Rajaie Cardiovascular Institute, Tehran, Iran.
Nondilated left ventricular cardiomyopathy (NDLVC) is a newly defined category of cardiomyopathy. We sought to evaluate and compare the phenotype of NDLVC with DCM using cardiac magnetic resonance (CMR) imaging and to investigate the prognostic significance of these conditions. One hundred and fifty patients suspected of having cardiomyopathy referred for CMR were recruited.
View Article and Find Full Text PDFAssociations With Adverse Postoperative Outcomes in Children Undergoing Atrial Septal Defect Closure in Lower-Resource Settings.
JACC Adv
December 2024
Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA.
Background: Atrial septal defects (ASDs) are a common cause of congenital heart disease worldwide.
Objectives: The purpose of the study was to assess change over time in surgical outcomes for ASD repair and identify patient-level risk factors for adverse postoperative outcomes.
Methods: We analyzed cases of isolated ASD in patients <18 years from 2010 to 2020 from 71 sites participating in the International Quality Improvement Collaborative for Congenital Heart Disease.
Transseptal BATMAN Procedure Utilizing a Simplified Technique: "Single Wire Approach for Traversing Tissue" (SWATT).
Catheter Cardiovasc Interv
January 2025
The Christ Hospital Heart and Vascular Institute, Cincinnati, Ohio, USA.
One of the major issues encountered in patients undergoing evaluation for Transcatheter mitral valve replacement (TMVR) is the risk of Left ventricular outflow tract (LVOT) obstruction. LVOT obstruction is a catastrophic complication of TMVR, the result of displacement of the anterior mitral valve leaflet (AML) toward the interventricular septum. Several strategies to mitigate the risk of LVOT obstruction have been described and include percutaneous laceration of the anterior mitral leaflet (LAMPOON), alcohol septal ablation, trans-atrial leaflet modification (SITRAL) and Balloon Assisted Translocation of Mitral Anterior leaflet to prevent LVOT obstruction (BATMAN).
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!