Publication
Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
| dc.contributor.author | Silva Cunha, P | |
| dc.contributor.author | Antunes, D | |
| dc.contributor.author | Laranjo, S | |
| dc.contributor.author | Coutinho, A | |
| dc.contributor.author | Abecasis, J | |
| dc.contributor.author | Oliveira, MM | |
| dc.date.accessioned | 2023-12-05T16:03:01Z | |
| dc.date.available | 2023-12-05T16:03:01Z | |
| dc.date.issued | 2023 | |
| dc.description.abstract | Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Front Cardiovasc Med . 2023 Jun 8:10:1149717. | pt_PT |
| dc.identifier.doi | 10.3389/fcvm.2023.1149717 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/4758 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Frontiers Media SA | pt_PT |
| dc.subject | HSM CAR | pt_PT |
| dc.subject | NPPA Gene | pt_PT |
| dc.subject | Atrial Fibrillation | pt_PT |
| dc.subject | Atrial Myopathy | pt_PT |
| dc.subject | Fibrosis | pt_PT |
| dc.subject | Mutation Genetics. | pt_PT |
| dc.title | Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 1149717 | pt_PT |
| oaire.citation.title | Frontiers in Cardiovascular Medicine | pt_PT |
| oaire.citation.volume | 10 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |