Bibliographic Details
| Title: |
Mutation burden in patients with small unrepaired atrial septal defects |
| Authors: |
Anne Kathrine Møller Nielsen, Camilla Nyboe, Anne Sif Lund Ovesen, Sebastian Udholm, Malthe Mølgård Larsen, Vibeke E. Hjortdal, Lars Allan Larsen |
| Source: |
International Journal of Cardiology Congenital Heart Disease, Vol 4, Iss , Pp 100164- (2021) |
| Publisher Information: |
Elsevier, 2021. |
| Publication Year: |
2021 |
| Collection: |
LCC:Diseases of the circulatory (Cardiovascular) system |
| Subject Terms: |
Congenital heart disease, Atrial septal defect, Genetics, Diseases of the circulatory (Cardiovascular) system, RC666-701 |
| More Details: |
Background: In a recent nationwide cohort study, we have discovered that patients living with an atrial septal defect (ASD) have a shorter life expectancy, increased risk of atrial fibrillation, pneumonia, and psychiatric issues compared to the general population. The pathophysiological mechanisms are still unknown. The objective of this study is to investigate if this group of patients is burdened by mutations in genes associated with ASD. Methods: We included 147 patients with an unrepaired ASD. We curated a list of ASD candidate genes, and patients were analyzed for genetic variants in these genes, using targeted next generation sequencing. We filtered for protein altering variants (PAVs) and protein truncating variants (PTVs) with minor allele frequency (MAF) |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2666-6685 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S2666668521000884; https://doaj.org/toc/2666-6685 |
| DOI: |
10.1016/j.ijcchd.2021.100164 |
| Access URL: |
https://doaj.org/article/a481eaf35941450cb93c680646dc08ba |
| Accession Number: |
edsdoj.481eaf35941450cb93c680646dc08ba |
| Database: |
Directory of Open Access Journals |
