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Sökning: L773:0022 2593 OR L773:1468 6244 > Genotype-phenotype ...

  • Christensen, Alex HorbyHerlev Gentofte Hosp, Denmark; Rigshosp, Denmark; Univ Copenhagen, Denmark,Copenhagen University Hospital,Gentofte Hospital,University of Copenhagen (författare)

Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure

  • Artikel/kapitelEngelska2022

Förlag, utgivningsår, omfång ...

  • 2021-08-16
  • BMJ PUBLISHING GROUP,2022
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:liu-181789
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-181789URI
  • https://doi.org/10.1136/jmedgenet-2021-107911DOI
  • https://lup.lub.lu.se/record/72dfc2c6-0324-4af2-8cc0-631229b60174URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding Agencies|Research Council at Herlev-Gentofte Hospital; Independent Research Fund Denmark [0134-00363B]; Novo Nordisk Foundation, DenmarkNovo Nordisk Foundation [NNF20OC0065799, NNF18OC0031258]; Aarno Koskelo Foundation; Finnish Cardiovascular Research Foundation; Heart Centre Research Foundation at Rigshospitalet; Swedish Heart-Lung FoundationSwedish Heart-Lung Foundation; ALF Foundation; South Eastern Health Authorities, Norway
  • Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic variants, and clinical hallmarks include arrhythmias and systolic dysfunction. We aimed at studying the impact of the implicated gene(s) on the disease course. Methods The Nordic ARVC Registry holds data on a multinational cohort of ARVC families. The effects of genotype on electrocardiographic features, imaging findings and clinical events were analysed. Results We evaluated 419 patients (55% men), with a mean follow-up of 11.2 +/- 7.4 years. A pathogenic desmosomal variant was identified in 62% of the 230 families: PKP2 in 41%, DSG2 in 13%, DSP in 7% and DSC2 in 3%. Reduced left ventricular ejection fraction (LVEF) <= 45% on cardiac MRI was more frequent among patients with DSC2/DSG2/DSP than PKP2 ARVC (27% vs 4%, p<0.01). In contrast, in Cox regression modelling of patients with definite ARVC, we found a higher risk of arrhythmias among PKP2 than DSC2/DSG2/DSP carriers: HR 0.25 (0.10-0.68, p<0.01) for atrial fibrillation/flutter, HR 0.67 (0.44-1.0, p=0.06) for ventricular arrhythmias and HR 0.63 (0.42-0.95, p<0.05) for any arrhythmia. Gene-negative patients had an intermediate risk (16%) of LVEF <= 45% and a risk of the combined arrhythmic endpoint comparable with DSC2/DSG2/DSP carriers. Male sex was a risk factor for both arrhythmias and reduced LVEF across all genotype groups (p<0.01). Conclusion In this large cohort of ARVC families with long-term follow-up, we found PKP2 genotype to be more arrhythmic than DSC2/DSG2/DSP or gene-negative carrier status, whereas reduced LVEF was mostly seen among DSC2/DSG2/DSP carriers. Male sex was associated with a more severe phenotype.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Platonov, Pyotr G.Lund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Electrocardiology Research Group - CIEL,Forskargrupper vid Lunds universitet,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups,Skåne University Hospital(Swepub:lu)kard-ppl (författare)
  • Jensen, Henrik KjaerulfAarhus Univ Hosp, Denmark; Aarhus Univ, Denmark,Aarhus University Hospital (författare)
  • Chivulescu, MonicaOslo Univ Hosp, Norway; Univ Oslo, Norway,Norwegian Radium Hospital,University of Oslo (författare)
  • Svensson, AnneliLinköping University,Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Kardiologiska kliniken US(Swepub:lu)an1284sv (författare)
  • Dahlberg, PiaSahlgrens Univ Hosp, Sweden,Sahlgrenska University Hospital(Swepub:lu)pi6230da (författare)
  • Madsen, TrineAalborg Univ Hosp, Denmark,Aalborg University Hospital (författare)
  • Frederiksen, Tanja CharlotteAarhus Univ Hosp, Denmark; Aarhus Univ, Denmark,Aarhus University Hospital (författare)
  • Helio, TiinaHelsinki Univ Hosp, Finland,Helsinki University Central Hospital (författare)
  • Lie, Oyvind HaugenOslo Univ Hosp, Norway; Univ Oslo, Norway,University of Oslo,Norwegian Radium Hospital (författare)
  • Haugaa, Kristina H.Oslo Univ Hosp, Norway; Univ Oslo, Norway,Norwegian Radium Hospital,University of Oslo (författare)
  • Svendsen, Jesper HastrupRigshosp, Denmark; Univ Copenhagen, Denmark,Copenhagen University Hospital,University of Copenhagen (författare)
  • Bundgaard, HenningRigshosp, Denmark; Univ Copenhagen, Denmark,Copenhagen University Hospital,University of Copenhagen (författare)
  • Herlev Gentofte Hosp, Denmark; Rigshosp, Denmark; Univ Copenhagen, DenmarkCopenhagen University Hospital (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Medical Genetics: BMJ PUBLISHING GROUP59:9, s. 858-8640022-25931468-6244

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