| Naslov (engleski) | Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation |
| Autor | Kristina Selthofer-Relatic
MBZ: 333024 |
| Autorova ustanova | (Klinički bolnički centar Osijek) |
| Autorova ustanova | Sveučilište Josipa Jurja Strossmayera u Osijeku
Medicinski fakultet Osijek |
Znanstveno / umjetničko
područje, polje i grana | BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Interna medicina |
Znanstveno / umjetničko
područje, polje i grana | BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka |
Znanstveno / umjetničko
područje, polje i grana | BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Kirurgija |
| Sažetak (engleski) | BACKGROUND: Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other ... Više organs can additionally make diagnosis difficult.
AIM: To describe different cardiac manifestations at different time points in the course of the disease: (1) 72-year-old female (echocardiography detection), heterozygote, significant left and mild right ventricular hypertrophy; (2) 62-year-old male (echocardiography detection), hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3) 45-year-old female (asymptomatic/family screening), heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4) 75-year-old female (symptomatic/family screening), heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve).
CONCLUSION: All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients' profiles unique and delay the time of detection. Sakrij dio sažetka |
| Jezik | engleski |
| Vrsta publikacije | Znanstveni rad - Prikaz slučaja |
| Status objave | Objavljen |
| Vrsta recenzije | Recenziran - međunarodna recenzija |
| Verzija publikacije | Objavljena verzija rada (izdavačev PDF) |
| Naslov časopisa | Case Reports in Cardiology |
| Brojčani podaci | vol. 20, str. 1-5 |
| p-ISSN | 2090-6404 |
| e-ISSN | 2090-6412 |
| DOI | https://doi.org/10.1155/2018/6131083 |
| URN:NBN | urn:nbn:hr:239:903132 |
| Datum objave publikacije | 2018 |
| URL dokumenta | https://www.hindawi.com/journals/cric/2018/6131083/abs/ |
| Vrsta resursa | Tekst |
| Prava pristupa | Otvoreni pristup |
| Uvjeti korištenja |  |
| Datum i vrijeme pohrane | 2019-11-07 12:37:11 |
