European Heart Journal Advance Access published November 17, 2015
EDITORIAL
European Heart Journal doi:10.1093/eurheartj/ehv539
Successful launch of a comprehensive European registry for the cardiomyopathies Andre Keren1* and William J. McKenna 2 1 Assuta Hashalom Heart Center Tel Aviv, Clalit Health Medical Organization, and Hadassah-Hebrew University Hospital, Jerusalem, Israel; and 2Institute of Cardiovascular Science, University College London, UK, and Heart Hospital, Hamad Medical Corporation, Doha, Qatar
Cardiomyopathies represent a heterogeneous group of uncommon diseases which are associated with significant morbidity and mortality. Because they are uncommon, multicentre, national and international registries and studies are essential for establishing diagnostic and therapeutic guidelines.1 – 4 The need for randomized trials is particularly important in this field in which almost all recommendations are based on expert consensus opinion (level of evidence C).5 – 9 In this issue of the journal, Elliott et al. report the results of the pilot phase of the EURObservational Research Programme (EORP) registry of cardiomyopathies.10 Twenty-seven referral centres from 12 European countries contributed to a shared effort to collect prospectively valuable information on epidemiological, demographic, diagnostic, genetic, and management aspects of the four major types of cardiomyopathies.11 – 13
Analysis of the major results Participating centres were required to have dedicated cardiomyopathy clinics with access to genetic testing for the cardiomyopathies and experience in interpretation of the results. During 12 months, 1150 patients were enrolled, of whom 61% had hypertrophic (HCM), 31% dilated (DCM), 5% arrhythmogenic right ventricular (ARVC), and 3% restrictive cardiomyopathy (RCM). Only 20% were newly diagnosed cases (new referrals). The median age at diagnosis was 46 years (interquartile range 32 – 58), with a wide spread of age range in HCM and DCM, with diagnosis of ARVC at younger age, and diagnosis of RCM at older age. The most frequent reason for diagnosis was symptoms (56%), but a significant minority (15%) were diagnosed by family screening, particularly in ARVC and HCM. As discussed by the authors, this might have been one of the reasons for the younger age at diagnosis in ARVC and HCM.
A major finding in the registry relates to the family screening and to genetic testing. Overall 46% had familial disease (.30% in DCM and RCM and .50% in ARVC and HCM) and 22% had a family history of sudden cardiac death. Genetic testing was performed in 41% and, of those, 51% were found to have a causative mutation. This emphasizes both the importance and feasibility of family screening and genetic testing for early diagnosis of the disease and for early implementation of lifestyle modification and other measures if required, including risk stratification and therapies for prevention of sudden death.2 – 4,6 – 9 A wide range of non-invasive tests were performed in most patients for diagnostic and prognostic purposes (table 3 of the paper). The first steps in the diagnosis of cardiomyopathies are the electrocardiogram and echocardiogram. There was no electrocardiogram in 31 patients with HCM, and lack of echo results in six cases with HCM and four with DCM. The authors do not comment on these missing data, but the explanation may relate to the diagnosis being made using other imaging modalities. Cardiac magnetic resonance imaging (CMRI) provides important, additional information to echocardiography in patients with cardiomyopathy. The fact that the majority of patients with HCM, DCM, and RCM did not undergo CMRI indicates a relatively slow penetrance of CMRI in routine practice even in dedicated cardiomyopathy centres, probably due to the high cost of the test. In addition, we lack standard criteria for CMRI tissue characterization as part of the diagnosis and management of HCM, DCM, and RCM. Endomyocardial biopsies, as expected, were performed primarily in RCM, in which there is a class 2a (level of evidence C) indication for the test.5 Interestingly, 24% of the 59 ARVC patients, where the indication is class 2b,5 also had a biopsy performed. A limitation in interpreting the results is the fact that two-thirds of the biopsies were performed in two of the 12 participating countries. Endomyocardial biopsy is the only test which can distinguish dilated from inflammatory cardiomyopathy. Despite the fact that this might have important therapeutic implications,14 only 20% of the DCM patients had an endomyocardial biopsy. The therapeutic approaches reported are mostly in keeping with previously reported and expected clinical practice. A surprising
The opinions expressed in this article are not necessarily those of the Editors of the European Heart Journal or of the European Society of Cardiology.
* Corresponding author. Assuta Hashalom Heart Institute, Ygal Alon Street 96, Tel Aviv, Israel. Tel: +972 2 6430 713, Fax: +972 2 6436 032, Email: [email protected] Published on behalf of the European Society of Cardiology. All rights reserved. & The Author 2015. For permissions please email: [email protected].
Downloaded from http://eurheartj.oxfordjournals.org/ by guest on November 19, 2015
This editorial refers to ‘European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology’, by P.M. Elliott et al., doi:10.1093/eurheartj/ehv497.
Page 2 of 3
Editorial
plantable cardioverter defibrillator (ICD) is consistent with the literature. In the dilated cardiomyopathy (DCM) cohort with 60% in NYHA class I and II, and only 11% in NYHA class IV, the high rate of ICD implantation (37%), and of a family history of SCD (16%), suggests strong representation of the arrhythmogenic mutations (e.g. lamin A/C); the genetic findings, when published, will be of interest. In arrhythmogenic right ventricular cardiomyopathy (ARVC), the proportion with a family history of SCD reflects the selection bias of an inherited cardiac disease group seeing the families of SCD victims, rather than arrhythmologists managing patients presenting with clinical arrhythmia. Though recent guidelines emphasize that a family history of SCD is not a useful predictive risk marker,15 the very high proportion of ICD implants (58%) in the registry may reflect this familial genetic background. *Data on family history of SCD are missing in 26 (4%), 28 (8%), and 3 (5%) of HCM, DCM, and ARVC patients, respectively.
finding was that 32% of the HCM patients were on an ACE inhibitor or AII antagonist, despite only 15% being in NYHA class III or IV. This may reflect a change in management practice in experienced centres, which recognizes that with earlier diagnosis and more effective sudden death prevention, the major determinants of outcome in HCM are now heart failure related. Another outlier is the high numbers (58%) of implantable cardioverter defibrillators (ICDs) in ARVC, predominantly for primary prevention. This can be explained, as the authors commented, by the lack of stringent criteria for ICD implantation in ARVC, and perhaps selection bias of more severe cases in the registry.10 The new international task force consensus statement on treatment of ARVC may provide a stronger basis for decision-making.15 In the ARVC cohort, almost 30% had ‘suspected arrhythmic/cardiogenic syncope’ and 36% had a family history of sudden death. These findings suggest a selection bias for individual patients and families in whom an arrhythmic event had already occurred (Figure 1).
Methodological difficulties and limitations of the pilot registry Cardiomyopathies are a heterogeneous group of diseases, in which diagnostic criteria, with arbitrary cut-offs of measured values or combined clinical and laboratory scoring models, had been defined based on expert consensus without the availability of gold standards. Some criteria have not changed since the M-mode echo era, despite technological advances which could perhaps be more extensively integrated in the diagnostic process. For example, CMRI has become fully integrated in the ARVC diagnosis scoring
system,7 while the diagnosis of HCM and DCM relies almost solely on arbitrary cut-offs of measured diameters and thickness, with inclusion of diastolic dysfunction parameters only in the diagnosis of RCM. These are important limitations of current diagnostic criteria, which can perhaps be improved by applying and analysing new approaches in large patient populations which will become available through joint efforts such as the current EORP registry. The data presented are relevant to dedicated European cardiomyopathy centres, and do not provide information on the majority of cases treated in primary and secondary care centres. There is a wide intercentre variability in recruitment (.50% of cases originate in four countries) and the reported use of diagnostic evaluation such as family screening, genetic testing, and performance of endomyocardial biopsies. The implications of these differences will be analysed in the long-term registry. In addition, several of the centres have published their patient cohorts in the past, and some of these data are included in the current combined registry. All these are inherent limitations for the pilot phase of a very promising long-term, comprehensive registry.
Importance of the registry Following the successful implementation of the pilot EORP registry, the long-term EORP cardiomyopathy registry was started in September 2014. It is anticipated that this project will be joined by many additional centres and countries, with a substantial increase in the number and type of enrolled patients. This will widen the range and scope of diagnostic and therapeutic approaches. The registry data can be used for obtaining more information on rare
Downloaded from http://eurheartj.oxfordjournals.org/ by guest on November 19, 2015
Figure 1 In hypertrophic cardiomyopathy (HCM), the proportion with a family history of sudden cardiac death (SCD) and those with an im-
Editorial
phenotypic variants of the disease, and for validation and improvement of diagnostic and therapeutic approaches, including risk evaluation models for sudden death. The registry can provide important regional data for the use of national professional societies and health authorities for evaluation of the type, quality, cost of care, and outcome as compared with the general European trend. This important initiative will improve understanding of the disease and standardize the diagnostic and therapeutic approaches for the benefit of our patients with cardiomyopathy. Conflict of interest: none declared.
References
7. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg 2011;142:e153 –e203. 8. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010;31: 2715 – 2726. 9. Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014;35:2733 – 2779. 10. Elliott PM, Charron P, Blanes JR, Tavazzi L, Tendera M, Konte´ M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology. Eur Heart J 2015;doi:10.1093/eurheartj/ehv497. 11. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006;113:1807 –1816. 12. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Ku¨hl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270 –276. 13. Arbustini E, Narula N, Tavazzi L, Serio A, Grasso M, Favalli V, Bellazzi R, Tajik JA, Bonow RO, Fuster V, Narula J. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014;64:304 –318. 14. Frustaci A, Russo MA, Chimenti C. Randomized study on the efficacy of immunosuppressive therapy in patients with virus-negative inflammatory cardiomyopathy: the TIMIC study. Eur Heart J 2009;30:1995 – 2002. 15. Corrado D, Wichter T, Link MS, Hauer R, Marchlinski F, Anastasakis A, Bauce B, Basso C, Brunckhorst C, Tsatsopoulou A, Tandri H, Paul M, Schmied C, Pelliccia A, Duru F, Protonotarios N, Estes NM 3rd, McKenna WJ, Thiene G, Marcus FI, Calkins H. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Circulation 2015;132:441–453.
Downloaded from http://eurheartj.oxfordjournals.org/ by guest on November 19, 2015
1. Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG; National Australian Childhood Cardiomyopathy Study. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639 – 1646. 2. Bellazzi R, Larizza C, Gabetta M, Milani G, Bucalo M, Mulas F, Nuzzo A, Favalli V, Arbustini E. Information technology solutions to support translational research on inherited cardiomyopathies. Stud Health Technol Inform 2011;169:907–911. 3. van Rijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Pilotto A, Pasotti M, Jenkins S, Rowland C, Aslam U, Wilde AA, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Pinto YM. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012;59:493–500. 4. O’Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J 2014;35:2010 –2020. 5. Cooper LT, Baughman KL, Feldman AM, Frustaci A, Jessup M, Kuhl U, Levine GN, Narula J, Starling RC, Towbin J, Virmani R. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology Endorsed by the Heart Failure Society of America and the Heart Failure Association of the European Society of Cardiology. Eur Heart J 2007;28: 3076– 3093. 6. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010;31:806 – 814.
Page 3 of 3
EDITORIAL
European Heart Journal doi:10.1093/eurheartj/ehv539
Successful launch of a comprehensive European registry for the cardiomyopathies Andre Keren1* and William J. McKenna 2 1 Assuta Hashalom Heart Center Tel Aviv, Clalit Health Medical Organization, and Hadassah-Hebrew University Hospital, Jerusalem, Israel; and 2Institute of Cardiovascular Science, University College London, UK, and Heart Hospital, Hamad Medical Corporation, Doha, Qatar
Cardiomyopathies represent a heterogeneous group of uncommon diseases which are associated with significant morbidity and mortality. Because they are uncommon, multicentre, national and international registries and studies are essential for establishing diagnostic and therapeutic guidelines.1 – 4 The need for randomized trials is particularly important in this field in which almost all recommendations are based on expert consensus opinion (level of evidence C).5 – 9 In this issue of the journal, Elliott et al. report the results of the pilot phase of the EURObservational Research Programme (EORP) registry of cardiomyopathies.10 Twenty-seven referral centres from 12 European countries contributed to a shared effort to collect prospectively valuable information on epidemiological, demographic, diagnostic, genetic, and management aspects of the four major types of cardiomyopathies.11 – 13
Analysis of the major results Participating centres were required to have dedicated cardiomyopathy clinics with access to genetic testing for the cardiomyopathies and experience in interpretation of the results. During 12 months, 1150 patients were enrolled, of whom 61% had hypertrophic (HCM), 31% dilated (DCM), 5% arrhythmogenic right ventricular (ARVC), and 3% restrictive cardiomyopathy (RCM). Only 20% were newly diagnosed cases (new referrals). The median age at diagnosis was 46 years (interquartile range 32 – 58), with a wide spread of age range in HCM and DCM, with diagnosis of ARVC at younger age, and diagnosis of RCM at older age. The most frequent reason for diagnosis was symptoms (56%), but a significant minority (15%) were diagnosed by family screening, particularly in ARVC and HCM. As discussed by the authors, this might have been one of the reasons for the younger age at diagnosis in ARVC and HCM.
A major finding in the registry relates to the family screening and to genetic testing. Overall 46% had familial disease (.30% in DCM and RCM and .50% in ARVC and HCM) and 22% had a family history of sudden cardiac death. Genetic testing was performed in 41% and, of those, 51% were found to have a causative mutation. This emphasizes both the importance and feasibility of family screening and genetic testing for early diagnosis of the disease and for early implementation of lifestyle modification and other measures if required, including risk stratification and therapies for prevention of sudden death.2 – 4,6 – 9 A wide range of non-invasive tests were performed in most patients for diagnostic and prognostic purposes (table 3 of the paper). The first steps in the diagnosis of cardiomyopathies are the electrocardiogram and echocardiogram. There was no electrocardiogram in 31 patients with HCM, and lack of echo results in six cases with HCM and four with DCM. The authors do not comment on these missing data, but the explanation may relate to the diagnosis being made using other imaging modalities. Cardiac magnetic resonance imaging (CMRI) provides important, additional information to echocardiography in patients with cardiomyopathy. The fact that the majority of patients with HCM, DCM, and RCM did not undergo CMRI indicates a relatively slow penetrance of CMRI in routine practice even in dedicated cardiomyopathy centres, probably due to the high cost of the test. In addition, we lack standard criteria for CMRI tissue characterization as part of the diagnosis and management of HCM, DCM, and RCM. Endomyocardial biopsies, as expected, were performed primarily in RCM, in which there is a class 2a (level of evidence C) indication for the test.5 Interestingly, 24% of the 59 ARVC patients, where the indication is class 2b,5 also had a biopsy performed. A limitation in interpreting the results is the fact that two-thirds of the biopsies were performed in two of the 12 participating countries. Endomyocardial biopsy is the only test which can distinguish dilated from inflammatory cardiomyopathy. Despite the fact that this might have important therapeutic implications,14 only 20% of the DCM patients had an endomyocardial biopsy. The therapeutic approaches reported are mostly in keeping with previously reported and expected clinical practice. A surprising
The opinions expressed in this article are not necessarily those of the Editors of the European Heart Journal or of the European Society of Cardiology.
* Corresponding author. Assuta Hashalom Heart Institute, Ygal Alon Street 96, Tel Aviv, Israel. Tel: +972 2 6430 713, Fax: +972 2 6436 032, Email: [email protected] Published on behalf of the European Society of Cardiology. All rights reserved. & The Author 2015. For permissions please email: [email protected].
Downloaded from http://eurheartj.oxfordjournals.org/ by guest on November 19, 2015
This editorial refers to ‘European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology’, by P.M. Elliott et al., doi:10.1093/eurheartj/ehv497.
Page 2 of 3
Editorial
plantable cardioverter defibrillator (ICD) is consistent with the literature. In the dilated cardiomyopathy (DCM) cohort with 60% in NYHA class I and II, and only 11% in NYHA class IV, the high rate of ICD implantation (37%), and of a family history of SCD (16%), suggests strong representation of the arrhythmogenic mutations (e.g. lamin A/C); the genetic findings, when published, will be of interest. In arrhythmogenic right ventricular cardiomyopathy (ARVC), the proportion with a family history of SCD reflects the selection bias of an inherited cardiac disease group seeing the families of SCD victims, rather than arrhythmologists managing patients presenting with clinical arrhythmia. Though recent guidelines emphasize that a family history of SCD is not a useful predictive risk marker,15 the very high proportion of ICD implants (58%) in the registry may reflect this familial genetic background. *Data on family history of SCD are missing in 26 (4%), 28 (8%), and 3 (5%) of HCM, DCM, and ARVC patients, respectively.
finding was that 32% of the HCM patients were on an ACE inhibitor or AII antagonist, despite only 15% being in NYHA class III or IV. This may reflect a change in management practice in experienced centres, which recognizes that with earlier diagnosis and more effective sudden death prevention, the major determinants of outcome in HCM are now heart failure related. Another outlier is the high numbers (58%) of implantable cardioverter defibrillators (ICDs) in ARVC, predominantly for primary prevention. This can be explained, as the authors commented, by the lack of stringent criteria for ICD implantation in ARVC, and perhaps selection bias of more severe cases in the registry.10 The new international task force consensus statement on treatment of ARVC may provide a stronger basis for decision-making.15 In the ARVC cohort, almost 30% had ‘suspected arrhythmic/cardiogenic syncope’ and 36% had a family history of sudden death. These findings suggest a selection bias for individual patients and families in whom an arrhythmic event had already occurred (Figure 1).
Methodological difficulties and limitations of the pilot registry Cardiomyopathies are a heterogeneous group of diseases, in which diagnostic criteria, with arbitrary cut-offs of measured values or combined clinical and laboratory scoring models, had been defined based on expert consensus without the availability of gold standards. Some criteria have not changed since the M-mode echo era, despite technological advances which could perhaps be more extensively integrated in the diagnostic process. For example, CMRI has become fully integrated in the ARVC diagnosis scoring
system,7 while the diagnosis of HCM and DCM relies almost solely on arbitrary cut-offs of measured diameters and thickness, with inclusion of diastolic dysfunction parameters only in the diagnosis of RCM. These are important limitations of current diagnostic criteria, which can perhaps be improved by applying and analysing new approaches in large patient populations which will become available through joint efforts such as the current EORP registry. The data presented are relevant to dedicated European cardiomyopathy centres, and do not provide information on the majority of cases treated in primary and secondary care centres. There is a wide intercentre variability in recruitment (.50% of cases originate in four countries) and the reported use of diagnostic evaluation such as family screening, genetic testing, and performance of endomyocardial biopsies. The implications of these differences will be analysed in the long-term registry. In addition, several of the centres have published their patient cohorts in the past, and some of these data are included in the current combined registry. All these are inherent limitations for the pilot phase of a very promising long-term, comprehensive registry.
Importance of the registry Following the successful implementation of the pilot EORP registry, the long-term EORP cardiomyopathy registry was started in September 2014. It is anticipated that this project will be joined by many additional centres and countries, with a substantial increase in the number and type of enrolled patients. This will widen the range and scope of diagnostic and therapeutic approaches. The registry data can be used for obtaining more information on rare
Downloaded from http://eurheartj.oxfordjournals.org/ by guest on November 19, 2015
Figure 1 In hypertrophic cardiomyopathy (HCM), the proportion with a family history of sudden cardiac death (SCD) and those with an im-
Editorial
phenotypic variants of the disease, and for validation and improvement of diagnostic and therapeutic approaches, including risk evaluation models for sudden death. The registry can provide important regional data for the use of national professional societies and health authorities for evaluation of the type, quality, cost of care, and outcome as compared with the general European trend. This important initiative will improve understanding of the disease and standardize the diagnostic and therapeutic approaches for the benefit of our patients with cardiomyopathy. Conflict of interest: none declared.
References
7. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg 2011;142:e153 –e203. 8. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010;31: 2715 – 2726. 9. Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014;35:2733 – 2779. 10. Elliott PM, Charron P, Blanes JR, Tavazzi L, Tendera M, Konte´ M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology. Eur Heart J 2015;doi:10.1093/eurheartj/ehv497. 11. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006;113:1807 –1816. 12. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Ku¨hl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270 –276. 13. Arbustini E, Narula N, Tavazzi L, Serio A, Grasso M, Favalli V, Bellazzi R, Tajik JA, Bonow RO, Fuster V, Narula J. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014;64:304 –318. 14. Frustaci A, Russo MA, Chimenti C. Randomized study on the efficacy of immunosuppressive therapy in patients with virus-negative inflammatory cardiomyopathy: the TIMIC study. Eur Heart J 2009;30:1995 – 2002. 15. Corrado D, Wichter T, Link MS, Hauer R, Marchlinski F, Anastasakis A, Bauce B, Basso C, Brunckhorst C, Tsatsopoulou A, Tandri H, Paul M, Schmied C, Pelliccia A, Duru F, Protonotarios N, Estes NM 3rd, McKenna WJ, Thiene G, Marcus FI, Calkins H. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Circulation 2015;132:441–453.
Downloaded from http://eurheartj.oxfordjournals.org/ by guest on November 19, 2015
1. Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG; National Australian Childhood Cardiomyopathy Study. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639 – 1646. 2. Bellazzi R, Larizza C, Gabetta M, Milani G, Bucalo M, Mulas F, Nuzzo A, Favalli V, Arbustini E. Information technology solutions to support translational research on inherited cardiomyopathies. Stud Health Technol Inform 2011;169:907–911. 3. van Rijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Pilotto A, Pasotti M, Jenkins S, Rowland C, Aslam U, Wilde AA, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Pinto YM. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012;59:493–500. 4. O’Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J 2014;35:2010 –2020. 5. Cooper LT, Baughman KL, Feldman AM, Frustaci A, Jessup M, Kuhl U, Levine GN, Narula J, Starling RC, Towbin J, Virmani R. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology Endorsed by the Heart Failure Society of America and the Heart Failure Association of the European Society of Cardiology. Eur Heart J 2007;28: 3076– 3093. 6. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010;31:806 – 814.
Page 3 of 3
