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Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy
Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Kardiologiska kliniken US.
Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Cellbiologi. Linköpings universitet, Hälsouniversitetet.
Vise andre og tillknytning
2012 (engelsk)Inngår i: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 46, nr 2, s. 72-75Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Objectives: The autosomal dominant form of arrhythmogenic right ventricular cardiomyopathy (ARVC)has been linked to mutations in desmosomal proteins. Different studies have shown that amutation in plakophilin-2 (PKP 2) is a frequent genetic cause for ARVC. We describe a newmutation in the PKP2 gene, the genotype-phenotype variation in this mutation and its clinicalconsequences.

Design: Individuals in a three generation family were investigated after the sudden cardiac death of a young male. Clinical evaluation, electrocardiography, echocardiography, magnetic resonance imaging, endomyocardial biopsy and genetic testing were performed.

Results: A novel heterozygote mutation, a c.368G>A transition, located in exon 3 of the PKP2 gene was found (p.Trp123X). The phenotype was characterized by arrhythmia at an early age in some individuals, with mild abnormalities on imaging. However a relative carrying this mutation, with positive findings on endomyocardial biopsy had an otherwise normal phenotype, for 16 years, whereas a relative fulfilling the modified Task Force Criteria for ARVC turned out to be a non-carrier.

Conclusions: This shows the variable penetrance and phenotypic expression in ARVC and highlights the need of genetic testing as well as a thorough phenotype examination as a part of the investigations in ARVC pedigrees.

sted, utgiver, år, opplag, sider
Informa Healthcare, 2012. Vol. 46, nr 2, s. 72-75
HSV kategori
Identifikatorer
URN: urn:nbn:se:liu:diva-70402DOI: 10.3109/14017431.2011.636068ISI: 000301496200002OAI: oai:DiVA.org:liu-70402DiVA, id: diva2:438972
Merknad
Funding agencies|FORSS||Medical Research Council of Southeast Sweden| 12043 |Swedish Heart-Lung foundation| 20070864 |Tilgjengelig fra: 2011-09-06 Laget: 2011-09-06 Sist oppdatert: 2017-12-08bibliografisk kontrollert
Inngår i avhandling
1. Arrhythmogenic right ventricular cardiomyopathy: Is it right?
Åpne denne publikasjonen i ny fane eller vindu >>Arrhythmogenic right ventricular cardiomyopathy: Is it right?
2011 (engelsk)Doktoravhandling, med artikler (Annet vitenskapelig)
Abstract [en]

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, where sudden cardiac death in young seemingly healthy persons may be the first symptom. There is a need for more sensitive and accurate diagnostic methods to detect signs of disease, at an early stage and in relatives of affected individuals. The aim of this thesis is the evaluation of new non-invasive modalities in assessment of right ventricular (RV) volume and function with focus on patients with ARVC.

Clinical and non-invasive follow-up of fifteen patients with ARVC during a mean period of 8 years permitted the evaluation of disease progression. RV volume analysis by magnetic resonance imaging relies on short axis (SA) views. A new axially rotated modality acquisition was tested and its feasibility in assessment of RV volume was evaluated. This acquisition seems to be able to improve the assessment of RV volume and function by reducing the uncertainty in defining the basal slice of the RV. A third study concentrated on analysis of RV regional and general function by echocardiography, using tissue Doppler imaging as well as two dimensional (2D) longitudinal strain based on speckle tracking in patients with ARVC, their first degree relatives and in healthy subjects. 2D strain showed a good feasibility in analysis of the RV function in relatives and controls but less in ARVC patients probably due to the progressive myocardial cell death with fibro-fatty replacement of the RV wall. In order to detect and follow up echocardiographic changes an index was developed combining dimensional and functional parameters for the left and for the right ventricle. Advances in the molecular genetics of ARVC have provided new insights into the understanding of the disease. Hitherto, 9 candidate genes have been identified. A new mutation in the plakophilin 2 gene was detected in a three generation family. The clinical phenotype related to this mutation was investigated.

The studies have evaluated and developed methods for studying the right ventricle with special emphasis on ARVC. With the ultimate goal of preventing sudden death in ARVC, a combination of genetic testing and improved diagnostic methods may create an improved algorithm for risk stratification and selection to prophylactic treatment.

sted, utgiver, år, opplag, sider
Linköping: Linköping University Electronic Press, 2011. s. 97
Serie
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1257
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-70403 (URN)978-91-7393-089-5 (ISBN)
Disputas
2011-10-07, Aulan, Hälsans Hus, Campus US, Linköpings universitet, Linköping, 13:00 (svensk)
Opponent
Veileder
Tilgjengelig fra: 2011-09-06 Laget: 2011-09-06 Sist oppdatert: 2020-02-03bibliografisk kontrollert

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