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  • 1.
    Aneq Åström, Meriam
    et al.
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Engvall, Jan
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Brudin, Lars
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet.
    Nylander, Eva
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Evaluation of Right and Left Ventricular Function Using Speckle Tracking Echocardiography in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and Their First Degree RelativesManuskript (preprint) (Övrigt vetenskapligt)
    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.

  • 2.
    Aneq Åström, Meriam
    et al.
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Fluur, Christina
    Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Kardiologiska kliniken US.
    Rehnberg, Malin
    Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet.
    Söderkvist, Peter
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Cellbiologi. Linköpings universitet, Hälsouniversitetet.
    Engvall, Jan
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Nylander, Eva
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Gunnarsson, Cecilia
    Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Diagnostikcentrum, Klinisk patologi och klinisk genetik.
    Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy2012Ingår i: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 46, nr 2, s. 72-75Artikel i tidskrift (Refereegranskat)
    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.

  • 3.
    Aneq Åström, Meriam
    et al.
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Nylander, Eva
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Ebbers, Tino
    Linköpings universitet, Centrum för medicinsk bildvetenskap och visualisering, CMIV. Linköpings universitet, Institutionen för medicin och hälsa, Fysiologi. Linköpings universitet, Hälsouniversitetet. Linköpings universitet, Institutionen för ekonomisk och industriell utveckling, Mekanisk värmeteori och strömningslära.
    Engvall, Jan
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Determination of right ventricular volume and function using multiple axially rotated MRI slices2011Ingår i: Clinical Physiology and Functional Imaging, ISSN 1475-0961, E-ISSN 1475-097X, Vol. 31, nr 3, s. 233-239Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Pandgt;Background: The conventional magnetic resonance imaging (MRI) method for right ventricular (RV) volume and motion, using short-axis (SA) orientation, is limited by RV anatomy and shape. We suggest an orientation based on six slices rotated around the long axis of the RV, rotated long axis (RLA). Materials and methods: Three phantoms were investigated in SA and RLA using cine balanced steady-state free precession MRI. Volumes were calculated based on segmentation and checked against true volumes. In 23 healthy male volunteers, we used six long-axis planes from the middle of the tricuspid valve to the RV apex, rotated in 30 degrees increments. For comparison, short-axis slices were acquired. Imaging parameters were identical in both acquisitions. Results: Right ventricular end-diastolic (EDV), end-systolic (ESV) and stroke volumes (SV) determined in the RLA 179 center dot 1 +/- 29 center dot 3; 80 center dot 1 +/- 17 center dot 1; 99 center dot 3 +/- 16 center dot 9 ml and in the SA were 174 center dot 0 +/- 21 center dot 1; 78 center dot 8 +/- 13 center dot 6; 95 center dot 3 +/- 14 center dot 5 ml with P-values for the difference from 0 center dot 17 to 0 center dot 64 (ns). Interobserver variability ranged between 3 center dot 2% and 6 center dot 6% and intraobserver variability between 2 center dot 8% and 6 center dot 8%. In SA views, consensus for the definition of the basal slice was necessary in 39% of the volunteers for whom the average volume change was 20% in ESV and 10% in EDV. Conclusions: The RLA method results in better visualization and definition of the RV inflow, outflow and apex. Accurate measurement of RV volumes for diagnosis and follow-up of cardiac diseases are enhanced by the RLA orientation, even though additional acquisition time is required.

  • 4.
    Carlén, Anna
    et al.
    Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Nylander, Eva
    Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Fysiologiska kliniken US. Linköpings universitet, Centrum för medicinsk bildvetenskap och visualisering, CMIV.
    Åström Aneq, Meriam
    Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Gustafsson, Mikael
    Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Kardiologiska kliniken US.
    ST/HR variables in firefighter exercise ECG: relation to ischemic heart disease2019Ingår i: Physiological Reports, E-ISSN 2051-817X, Vol. 7, nr 2, artikel-id e13968Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Exercise electrocardiography (ExECG) is regularly performed by Swedish firefighters by law. Heart rate-corrected analysis of ST segment variables (ST/HR) has shown improved prediction of ischemic heart disease (IHD) compared to ST depression alone. This has not previously been extensively studied in asymptomatic persons with a low probability of IHD. We therefore evaluated the predictive performance of ST/HR analysis in firefighter ExECG. ExECG was studied in 521 male firefighters. During 8.4 ± 2.1 years, 2.3% (n = 12) were verified with IHD by catheterization or myocardial scintigraphy (age 51.5 ± 5.5 years) and were compared with firefighters without imaging proof of IHD (44.2 ± 10.1 years). The predictive value of ST depression, ST/HR index, ST/HR slope, and area and rotation of the ST/HR loop was calculated as age-adjusted odds ratios (OR), in 10 ECG leads. Predictive accuracy was analyzed with receiver operating characteristics (ROC) analysis. ST/HR index ≤-1.6 μV/bpm and ST/HR slope ≤-2.4 μV/bpm were associated with increased IHD risk in three individual leads (all OR > 1.0, P < 0.05). ST/HR loop area lower than the fifth percentile of non-IHD subjects indicated IHD risk in V4, V5, aVF, II, and -aVR (P < 0.05). ST depression ≤-0.1 mV was associated with IHD only in V4 (OR, 9.6, CI, 2.3-40.0). ROC analysis of each of these variables yielded areas under the curve of 0.72 or lower for all variables and leads. Clockwise-rotated ST/HR loops was associated with increased risk in most leads compared to counterclockwise rotation. The limited clinical value of ExECG in low-risk populations was emphasized, but if performed, ST/HR analysis should probably be given more importance.

  • 5.
    Carlén, Anna
    et al.
    Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Fysiologiska kliniken US. Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin.
    Åström Aneq, Meriam
    Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Fysiologiska kliniken US. Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin.
    Nylander, Eva
    Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Fysiologiska kliniken US. Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin.
    Gustafsson, Mikael
    Linköpings universitet, Medicinska fakulteten. Region Östergötland, Hjärt- och Medicincentrum, Kardiologiska kliniken US. Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin.
    Loaded treadmill walking and cycle ergometry to assess work capacity: a retrospective comparison in 424 firefighters.2017Ingår i: Clinical Physiology and Functional Imaging, ISSN 1475-0961, E-ISSN 1475-097X, Vol. 37, nr 1, s. 37-44Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The fitness of firefighters is regularly evaluated using exercise tests. We aimed to compare, with respect to age and body composition, two test modalities for the assessment work capacity. A total of 424 Swedish firefighters with cycle ergometer (CE) and treadmill (TM) tests available from Jan 2004 to Dec 2010 were included. We compared results from CE (6 min at 200 W, 250 W or incremental ramp exercise) with TM (6 min at 8° inclination, 4·5 km h(-1) or faster, wearing 24-kg protective equipment). Oxygen requirements were estimated by prediction equations. It was more common to pass the TM test and fail the supposedly equivalent CE test (20%), than vice versa (0·5%), P<0·001. Low age and tall stature were significant predictors of passing both CE and TM tests (P<0·05), while low body mass predicted accomplishment of TM test only (P = 0·006). Firefighters who passed the TM but failed the supposedly equivalent CE test within 12 months had significantly lower body mass, lower BMI, lower BSA and shorter stature than did those who passed both tests. Calculated oxygen uptake was higher in TM tests compared with corresponding CE tests (P<0·001). Body constitution affected approval differently depending on the test modality. A higher approval rate in TM testing suggests lower cardiorespiratory requirements compared with CE testing, even though estimated oxygen uptake was higher during TM testing. The relevance of our findings in relation to the occupational demands needs reconsidering.

  • 6.
    Åström Aneq, Meriam
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Arrhythmogenic right ventricular cardiomyopathy: Is it right?2011Doktorsavhandling, sammanläggning (Övrigt vetenskapligt)
    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.

    Delarbeten
    1. Long-term follow-up in arrhythmogenic right ventricular cardiomyopathy using Tissue Doppler Imaging
    Öppna denna publikation i ny flik eller fönster >>Long-term follow-up in arrhythmogenic right ventricular cardiomyopathy using Tissue Doppler Imaging
    2008 (Engelska)Ingår i: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 42, nr 6, s. 368-374Artikel i tidskrift (Refereegranskat) Published
    Abstract [en]

    Aim: To study patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and describe different echocardiographic parameters and their change over time during almost 10 years follow-up period.

    Methods: Fifteen patients (9 male, 6 female), aged 22-58 years (mean 40) with a diagnosis of ARVC, were followed up for a period of 6-10 years (mean 8.7). Twelve-lead and a signal- averaged ECG was recorded. Tricuspid and mitral annular motion and tissue Doppler imaging were registered by echocardiography. Wall motion score index (WMSI) was calculated for the left and right ventricles.

    Results: We registered significant reduction in systolic tissue velocity on right ventricle free wall between the first and last investigations: 7-17cm/s (mean 11.8) to 4-15 (mean 9.1), p=0.005. WMSI increased by at least 0.2 in 10/14 patients for the right and in 8/15 patients for the left ventricle. A decrease in velocity time integral for the left ventricular outflow was observed (16-30 to 13-21, p=0.009).

    Conclusion: ARVC is a progressive disease with individual variation. Left ventricular involvement may occur early in the disease. Tissue Doppler imaging is a useful tool to follow-up right ventricular abnormalities.

    Nyckelord
    Arrhythmogenic right ventricular cardiomyopathy, Doppler tissue imaging, progression, right ventricular function
    Nationell ämneskategori
    Medicin och hälsovetenskap
    Identifikatorer
    urn:nbn:se:liu:diva-16180 (URN)10.1080/14017430802372384 (DOI)
    Tillgänglig från: 2009-01-09 Skapad: 2009-01-09 Senast uppdaterad: 2017-12-14
    2. Determination of right ventricular volume and function using multiple axially rotated MRI slices
    Öppna denna publikation i ny flik eller fönster >>Determination of right ventricular volume and function using multiple axially rotated MRI slices
    2011 (Engelska)Ingår i: Clinical Physiology and Functional Imaging, ISSN 1475-0961, E-ISSN 1475-097X, Vol. 31, nr 3, s. 233-239Artikel i tidskrift (Refereegranskat) Published
    Abstract [en]

    Pandgt;Background: The conventional magnetic resonance imaging (MRI) method for right ventricular (RV) volume and motion, using short-axis (SA) orientation, is limited by RV anatomy and shape. We suggest an orientation based on six slices rotated around the long axis of the RV, rotated long axis (RLA). Materials and methods: Three phantoms were investigated in SA and RLA using cine balanced steady-state free precession MRI. Volumes were calculated based on segmentation and checked against true volumes. In 23 healthy male volunteers, we used six long-axis planes from the middle of the tricuspid valve to the RV apex, rotated in 30 degrees increments. For comparison, short-axis slices were acquired. Imaging parameters were identical in both acquisitions. Results: Right ventricular end-diastolic (EDV), end-systolic (ESV) and stroke volumes (SV) determined in the RLA 179 center dot 1 +/- 29 center dot 3; 80 center dot 1 +/- 17 center dot 1; 99 center dot 3 +/- 16 center dot 9 ml and in the SA were 174 center dot 0 +/- 21 center dot 1; 78 center dot 8 +/- 13 center dot 6; 95 center dot 3 +/- 14 center dot 5 ml with P-values for the difference from 0 center dot 17 to 0 center dot 64 (ns). Interobserver variability ranged between 3 center dot 2% and 6 center dot 6% and intraobserver variability between 2 center dot 8% and 6 center dot 8%. In SA views, consensus for the definition of the basal slice was necessary in 39% of the volunteers for whom the average volume change was 20% in ESV and 10% in EDV. Conclusions: The RLA method results in better visualization and definition of the RV inflow, outflow and apex. Accurate measurement of RV volumes for diagnosis and follow-up of cardiac diseases are enhanced by the RLA orientation, even though additional acquisition time is required.

    Ort, förlag, år, upplaga, sidor
    Blackwell Publishing Ltd, 2011
    Nyckelord
    axial rotation, cine MRI, heart volumes, methodological comparison, normal values
    Nationell ämneskategori
    Medicin och hälsovetenskap
    Identifikatorer
    urn:nbn:se:liu:diva-67837 (URN)10.1111/j.1475-097X.2011.01006.x (DOI)000289258100012 ()
    Anmärkning
    This is the authors’ version of the following article: Meriam Aneq Åström, Eva Nylander, Tino Ebbers and Jan Engvall, Determination of right ventricular volume and function using multiple axially rotated MRI slices, 2011, CLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING, (31), 3, 233-239. which has been published in final form at: http://dx.doi.org/10.1111/j.1475-097X.2011.01006.x Copyright: Blackwell Publishing Ltd http://eu.wiley.com/WileyCDA/Brand/id-35.htmlTillgänglig från: 2011-04-29 Skapad: 2011-04-29 Senast uppdaterad: 2017-12-11Bibliografiskt granskad
    3. Evaluation of Right and Left Ventricular Function Using Speckle Tracking Echocardiography in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and Their First Degree Relatives
    Öppna denna publikation i ny flik eller fönster >>Evaluation of Right and Left Ventricular Function Using Speckle Tracking Echocardiography in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and Their First Degree Relatives
    (Engelska)Manuskript (preprint) (Övrigt vetenskapligt)
    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.

    Nationell ämneskategori
    Medicin och hälsovetenskap
    Identifikatorer
    urn:nbn:se:liu:diva-70401 (URN)
    Tillgänglig från: 2011-09-06 Skapad: 2011-09-06 Senast uppdaterad: 2011-09-06Bibliografiskt granskad
    4. Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy
    Öppna denna publikation i ny flik eller fönster >>Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy
    Visa övriga...
    2012 (Engelska)Ingår i: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 46, nr 2, s. 72-75Artikel i tidskrift (Refereegranskat) 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.

    Ort, förlag, år, upplaga, sidor
    Informa Healthcare, 2012
    Nationell ämneskategori
    Medicin och hälsovetenskap
    Identifikatorer
    urn:nbn:se:liu:diva-70402 (URN)10.3109/14017431.2011.636068 (DOI)000301496200002 ()
    Anmärkning
    Funding agencies|FORSS||Medical Research Council of Southeast Sweden| 12043 |Swedish Heart-Lung foundation| 20070864 |Tillgänglig från: 2011-09-06 Skapad: 2011-09-06 Senast uppdaterad: 2017-12-08Bibliografiskt granskad
  • 7.
    Åström Aneq, Meriam
    et al.
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärtcentrum, Fysiologiska kliniken.
    Lindström, Lena
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet.
    Nylander, Eva
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärtcentrum, Fysiologiska kliniken.
    Long-term follow-up in arrhythmogenic right ventricular cardiomyopathy using Tissue Doppler Imaging2008Ingår i: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 42, nr 6, s. 368-374Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Aim: To study patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and describe different echocardiographic parameters and their change over time during almost 10 years follow-up period.

    Methods: Fifteen patients (9 male, 6 female), aged 22-58 years (mean 40) with a diagnosis of ARVC, were followed up for a period of 6-10 years (mean 8.7). Twelve-lead and a signal- averaged ECG was recorded. Tricuspid and mitral annular motion and tissue Doppler imaging were registered by echocardiography. Wall motion score index (WMSI) was calculated for the left and right ventricles.

    Results: We registered significant reduction in systolic tissue velocity on right ventricle free wall between the first and last investigations: 7-17cm/s (mean 11.8) to 4-15 (mean 9.1), p=0.005. WMSI increased by at least 0.2 in 10/14 patients for the right and in 8/15 patients for the left ventricle. A decrease in velocity time integral for the left ventricular outflow was observed (16-30 to 13-21, p=0.009).

    Conclusion: ARVC is a progressive disease with individual variation. Left ventricular involvement may occur early in the disease. Tissue Doppler imaging is a useful tool to follow-up right ventricular abnormalities.

  • 8.
    Åström, Meriam Aneq
    et al.
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Engvall, Jan
    Linköpings universitet, Institutionen för medicin och hälsa, Avdelningen för kardiovaskulär medicin. Linköpings universitet, Hälsouniversitetet.
    Brudin, Lars
    Kalmar County Hospital, Sweden .
    Nylander, Eva
    Linköpings universitet, Institutionen för medicin och hälsa, Klinisk fysiologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Hjärt- och Medicincentrum, Fysiologiska kliniken US.
    Evaluation of right and left ventricular function using speckle tracking echocardiography in patients with arrhythmogenic right ventricular cardiomyopathy and their first degree relatives2012Ingår i: Cardiovascular Ultrasound, ISSN 1476-7120, E-ISSN 1476-7120, Vol. 10, nr 37Artikel i tidskrift (Refereegranskat)
    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 less thanl 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.

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