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Evaluation of Right and Left Ventricular Function Using Speckle Tracking Echocardiography in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and Their First Degree Relatives
Linköping University, Department of Medical and Health Sciences, Clinical Physiology. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Heart and Medicine Centre, Department of Clinical Physiology UHL.
Linköping University, Department of Medical and Health Sciences, Clinical Physiology. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Heart and Medicine Centre, Department of Clinical Physiology UHL.
Linköping University, Department of Medical and Health Sciences, Clinical Physiology. Linköping University, Faculty of Health Sciences.
Linköping University, Department of Medical and Health Sciences, Clinical Physiology. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Heart and Medicine Centre, Department of Clinical Physiology UHL.
(English)Manuscript (preprint) (Other academic)
Abstract [en]

Introduction and aim: The identification of right ventricular abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) in early stages is still difficult. The aim of this study was to investigate if longitudinal strain based on speckle tracking can detect subtle right (RV) or left ventricular (LV) dysfunction as an early sign of ARVC.

Methods and results: Seventeen male patients, fulfilling Task force criteria for ARVC, 49 (32-70) years old, nineteen male first degree relatives 29 (19-73) y.o. and twenty-two healthy male volunteers 36 (24-66) y.o participated in the study. Twelve-lead and signal-averaged electrocardiograms were recorded. All subjects underwent echocardiography. LV and RV diameters, peak systolic velocity from tissue Doppler and longitudinal strain based on speckle tracking were measured from the basal and mid segments in both ventricles. RV longitudinal strain measurement was successful in first degree relatives and controls (95 resp. 86%) but less feasible in patients (59%). Results were not systematically different between first degree relatives and controls. Using discriminant analysis, we then developed an index based on echocardiographic parameters. All normal controls had an index <l while patients with abnormal ventricles had an index between 1-4. Some of the first degree relatives deviated from the normal pattern.

Conclusion: Longitudinal strain of LV and RV segments was significantly lower in patients than in relatives and controls. An index was developed incorporating dimensional and functional echocardiographic parameters. In combination with genetic testing this index might help to detect early phenotype expression in mutation carriers.

National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-70401OAI: oai:DiVA.org:liu-70401DiVA: diva2:438965
Available from: 2011-09-06 Created: 2011-09-06 Last updated: 2011-09-06Bibliographically approved
In thesis
1. Arrhythmogenic right ventricular cardiomyopathy: Is it right?
Open this publication in new window or tab >>Arrhythmogenic right ventricular cardiomyopathy: Is it right?
2011 (English)Doctoral thesis, comprehensive summary (Other academic)
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.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2011. 97 p.
Series
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1257
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:liu:diva-70403 (URN)978-91-7393-089-5 (ISBN)
Public defence
2011-10-07, Aulan, Hälsans Hus, Campus US, Linköpings universitet, Linköping, 13:00 (Swedish)
Opponent
Supervisors
Available from: 2011-09-06 Created: 2011-09-06 Last updated: 2011-09-08Bibliographically approved

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Aneq Åström, MeriamEngvall, JanNylander, Eva

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