Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
Linköping University, Department of Medical and Health Sciences, Division of Cardiovascular Medicine. Region Östergötland, Heart and Medicine Center, Department of Cardiology in Linköping. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Medical and Health Sciences, Division of Cardiovascular Medicine. Region Östergötland, Heart and Medicine Center, Department of Clinical Physiology in Linköping. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics.
Linköping University, Department of Medical and Health Sciences, Division of Cardiovascular Medicine. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Heart and Medicine Center, Department of Cardiology in Linköping.
Show others and affiliations
2016 (English)In: American journal of cardiovascular disease, ISSN 2160-200X, Vol. 6, no 2, p. 55-65Article in journal (Refereed) Published
Abstract [en]

In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied. Our primary aim was to determine the carriers that fulfilled the arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria of 2010. Our secondary aim was to investigate whether any specific clinical characteristics can be attributed to this particular gene variant. Index patients were assessed using next generation ARVC panel sequencing technique and their family members were assessed by Sanger sequencing targeted at the PKP2 c.2146-1G>C variant. The gene variant carriers were offered a clinical follow-up, with evaluation based on the patient's history and a standard set of non-invasive testing. The PKP2 c.2146-1G>C gene variant was found in 23 of 41 patients who underwent the examination. Twelve of the 19 family members showed "possible ARVC". One with "borderline ARVC" and the rest with "definite ARVC" demonstrated re-polarization disturbances, but arrhythmia was uncommon. A lethal event occurred in a 14-year-old boy. In the present study, no definitive genotype-phenotype correlations were found, where the majority of the family members carrying the PKP2 c.2146-1G>C gene variant were diagnosed with "possible ARVC". These individuals should be offered a long-term follow-up since they are frequently symptomless but still at risk for insidious sudden cardiac death due to ventricular arrhythmia.

Place, publisher, year, edition, pages
Madison, WI, United States: E-Century Publishing Corporation , 2016. Vol. 6, no 2, p. 55-65
National Category
Cardiac and Cardiovascular Systems
Identifiers
URN: urn:nbn:se:liu:diva-134011PubMedID: 27335691OAI: oai:DiVA.org:liu-134011DiVA, id: diva2:1066352
Available from: 2017-01-18 Created: 2017-01-18 Last updated: 2018-03-23Bibliographically approved

Open Access in DiVA

fulltext(500 kB)37 downloads
File information
File name FULLTEXT01.pdfFile size 500 kBChecksum SHA-512
ab4271e16ab742f10e7da91104079eaba642ac8441b1d13a5c2ef48ea218610e67bde54126329775547ebc8a15cdef85cc16306c81b2d42a1dac780928042d45
Type fulltextMimetype application/pdf

PubMed

Search in DiVA

By author/editor
Svensson, AnneliÅström Aneq, MeriamWidlund, Kjerstin FermGreen, AnnaRehnberg, MalinGunnarsson, Cecilia
By organisation
Division of Cardiovascular MedicineDepartment of Cardiology in LinköpingFaculty of Medicine and Health SciencesDepartment of Clinical Physiology in LinköpingDepartment of Clinical and Experimental MedicineDepartment of Clinical Pathology and Clinical GeneticsDivision of Cell Biology
Cardiac and Cardiovascular Systems

Search outside of DiVA

GoogleGoogle Scholar
Total: 37 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

pubmed
urn-nbn

Altmetric score

pubmed
urn-nbn
Total: 97 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf