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1. Risks of ventricular arrhythmia and heart failure in carriers of RBM20 variants

Author

Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., Elliott, Perry M., Cannie, Douglas E., Protonotarios, Alexandros, Bakalakos, Athanasios, Syrris, Petros, Lorenzini, Massimiliano, De Stavola, Bianca, Bjerregaard, Louise, Dybro, Anne M., Hey, Thomas M., Hansen, Frederikke G., Navarro Peñalver, Marina, Crespo-Leiro, María Generosa, Larrañaga-Moreira, José M., Frutos, Fernando de, Johnson, Renee, Slater, Thomas A., Monserrat, Lorenzo, Sengupta, Anshuman, Mestroni, Luisa, Taylor, Matthew R.G., Sinagra, Gianfranco, Bilinska, Zofia, Solla-Ruiz, Itziar, Arana Achaga, Xabier, Barriales-Villa, Roberto, García-Pavia, Pablo, Gimeno, Juan R., Dal Ferro, Matteo, Merlo, Marco, Wahbi, Karim, Fatkin, Diane, Mogensen, Jens, Rasmussen, Torsten B., and Elliott, Perry M.

Abstract

[Abstract] Background: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in RBM20 variant carriers and the impact of sex on outcomes. Methods: Consecutive probands and relatives carrying RBM20 variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined. RBM20 variant carriers with left ventricular systolic dysfunction (RBM20LVSD) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction. Results: Longitudinal follow-up data were available for 143 RBM20 variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank P=0.07 and P=0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank P<0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF >35%. At 5 years, 15 of 67 (22.4%) RBM20LVSD versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank P<0.001). RBM20 variant carriage conferred a 6.0-fold increase in risk of the primary end point. Conclusions: RBM20 variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female RBM20 variant carriers is similar, but male sex is strongly associated with ESHF.

Published
2023

2. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, Elliott, Perry M., Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, and Elliott, Perry M.

Abstract

[Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3–109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2–60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .09). Conclusions Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.

Published
2023

3. Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Author

Brignole, M, Cecchi, F, Anastasakis, A, Crotti, L, Deharo, J, Elliott, P, Fedorowski, A, Kaski, J, Limongelli, G, Maron, M, Olivotto, I, Ommen, S, Parati, G, Shen, W, Ungar, A, Wilde, A, Brignole, Michele, Cecchi, Franco, Anastasakis, Aris, Crotti, Lia, Deharo, Jean Claude, Elliott, Perry M, Fedorowski, Artur, Kaski, Juan Pablo, Limongelli, Giuseppe, Maron, Martin S, Olivotto, Iacopo, Ommen, Steve R, Parati, Gianfranco, Shen, Win, Ungar, Andrea, Wilde, Arthur, Brignole, M, Cecchi, F, Anastasakis, A, Crotti, L, Deharo, J, Elliott, P, Fedorowski, A, Kaski, J, Limongelli, G, Maron, M, Olivotto, I, Ommen, S, Parati, G, Shen, W, Ungar, A, Wilde, A, Brignole, Michele, Cecchi, Franco, Anastasakis, Aris, Crotti, Lia, Deharo, Jean Claude, Elliott, Perry M, Fedorowski, Artur, Kaski, Juan Pablo, Limongelli, Giuseppe, Maron, Martin S, Olivotto, Iacopo, Ommen, Steve R, Parati, Gianfranco, Shen, Win, Ungar, Andrea, and Wilde, Arthur

Abstract

Syncopal events in patients with hypertrophic cardiomyopathy (HCM) are of concern as they are a vital consideration in algorithms for risk stratification for sudden cardiac death (SCD) and ICD implantation. However, the cause of syncope is often under-investigated and/or unexplained. Current syncope guidelines do not provide a detailed definition of unexplained syncope. To address this important gap, an international panel of experts in the field of both syncope and HCM wrote a consensus document with the aim of providing practical guidance for the diagnosis and management of syncope in patients with HCM.

Published
2023

4. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Arts Assistenten Cardiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Cardiologie, Team Medisch, Onderzoek Precision medicine, Genetica Groep Van Tintelen, Cancer, Child Health, Nagyova, Emilia, Hoorntje, Edgar T, Rijdt, Wouter P Te, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M, Duru, Firat, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A M, Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F, van den Berg, Maarten P, Asselbergs, Folkert W, James, Cynthia A, Jongbloed, Jan D H, Harakalova, Magdalena, van Tintelen, J Peter, Arts Assistenten Cardiologie, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Cardiologie, Team Medisch, Onderzoek Precision medicine, Genetica Groep Van Tintelen, Cancer, Child Health, Nagyova, Emilia, Hoorntje, Edgar T, Rijdt, Wouter P Te, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M, Duru, Firat, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A M, Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F, van den Berg, Maarten P, Asselbergs, Folkert W, James, Cynthia A, Jongbloed, Jan D H, Harakalova, Magdalena, and van Tintelen, J Peter

Published
2023

5. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Nagyova, Emilia, Hoorntje, Edgar T, Te Rijdt, Wouter P, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M; https://orcid.org/0000-0003-1896-0803, Duru, Firat; https://orcid.org/0000-0002-4748-0158, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, et al, Nagyova, Emilia, Hoorntje, Edgar T, Te Rijdt, Wouter P, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M; https://orcid.org/0000-0003-1896-0803, Duru, Firat; https://orcid.org/0000-0002-4748-0158, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, and et al

Abstract

The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation for the largest series of ARVC patients carrying multiple desmosomal pathogenic variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients with one or no remaining reclassified variant (hazard ratios of 1.9 and 1.8, respectively). Periodic reclassification of variants contributes to more accurate risk stratification and subsequent clinical management strategy. Graphical Abstract.

Published
2023

6. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Nagyova, Emilia, Hoorntje, Edgar T., Rijdt, Wouter P.te, Bosman, Laurens P., Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M., Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H., Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M., Duru, Firat, Koskenvuo, Juha W., Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P., Dooijes, Dennis, Deprez, Ronald H. Lekanne, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A. M., Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F., van den Berg, Maarten P., Asselbergs, Folkert W., James, Cynthia A., Jongbloed, Jan D. H., Harakalova, Magdalena, van Tintelen, J. Peter, Nagyova, Emilia, Hoorntje, Edgar T., Rijdt, Wouter P.te, Bosman, Laurens P., Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M., Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H., Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M., Duru, Firat, Koskenvuo, Juha W., Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P., Dooijes, Dennis, Deprez, Ronald H. Lekanne, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A. M., Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F., van den Berg, Maarten P., Asselbergs, Folkert W., James, Cynthia A., Jongbloed, Jan D. H., Harakalova, Magdalena, and van Tintelen, J. Peter

Abstract

The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation for the largest series of ARVC patients carrying multiple desmosomal pathogenic variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients with one or no remaining reclassified variant (hazard ratios of 1.9 and 1.8, respectively). Periodic reclassification of variants contributes to more accurate risk stratification and subsequent clinical management strategy., The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation for the largest series of ARVC patients carrying multiple desmosomal pathogenic variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients with one or no remaining reclassified variant (hazard ratios of 1.9 and 1.8, respectively). Periodic reclassification of variants contributes to more accurate risk stratification and subsequent clinical management strategy. [Figure not available: see fulltext.].

Published
2023

7. A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients

Author

Nagyova, Emilia, Hoorntje, Edgar T., Rijdt, Wouter P.te, Bosman, Laurens P., Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M., Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H., Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M., Duru, Firat, Koskenvuo, Juha W., Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P., Dooijes, Dennis, Deprez, Ronald H. Lekanne, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A. M., Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F., van den Berg, Maarten P., Asselbergs, Folkert W., James, Cynthia A., Jongbloed, Jan D. H., Harakalova, Magdalena, van Tintelen, J. Peter, Nagyova, Emilia, Hoorntje, Edgar T., Rijdt, Wouter P.te, Bosman, Laurens P., Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M., Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H., Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M., Duru, Firat, Koskenvuo, Juha W., Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P., Dooijes, Dennis, Deprez, Ronald H. Lekanne, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A. M., Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F., van den Berg, Maarten P., Asselbergs, Folkert W., James, Cynthia A., Jongbloed, Jan D. H., Harakalova, Magdalena, and van Tintelen, J. Peter

Abstract

The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation for the largest series of ARVC patients carrying multiple desmosomal pathogenic variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients with one or no remaining reclassified variant (hazard ratios of 1.9 and 1.8, respectively). Periodic reclassification of variants contributes to more accurate risk stratification and subsequent clinical management strategy., The presence of multiple pathogenic variants in desmosomal genes (DSC2, DSG2, DSP, JUP, and PKP2) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to a severe phenotype. However, the pathogenicity of variants is reclassified frequently, which may result in a changed clinical risk prediction. Here, we present the collection, reclassification, and clinical outcome correlation for the largest series of ARVC patients carrying multiple desmosomal pathogenic variants to date (n = 331). After reclassification, only 29% of patients remained carriers of two (likely) pathogenic variants. They reached the composite endpoint (ventricular arrhythmias, heart failure, and death) significantly earlier than patients with one or no remaining reclassified variant (hazard ratios of 1.9 and 1.8, respectively). Periodic reclassification of variants contributes to more accurate risk stratification and subsequent clinical management strategy. [Figure not available: see fulltext.].

Published
2023

8. Indications and utility of cardiac genetic testing in athletes

Author

Castelletti, S., Gray, B.R., Basso, Cristina, Behr, E.R., Crotti, L., Elliott, Perry M., Loeys, B.L., Wilde, A.A., Papadakis, Michael, Castelletti, S., Gray, B.R., Basso, Cristina, Behr, E.R., Crotti, L., Elliott, Perry M., Loeys, B.L., Wilde, A.A., and Papadakis, Michael

Abstract

Contains fulltext : 253725.pdf (Publisher’s version ) (Open Access)

Published
2022

9. Indications and utility of cardiac genetic testing in athletes

Author

Castelletti, S., Gray, B.R., Basso, Cristina, Behr, E.R., Crotti, L., Elliott, Perry M., Loeys, B.L., Wilde, A.A., Papadakis, Michael, Castelletti, S., Gray, B.R., Basso, Cristina, Behr, E.R., Crotti, L., Elliott, Perry M., Loeys, B.L., Wilde, A.A., and Papadakis, Michael

Abstract

Contains fulltext : 253725.pdf (Publisher’s version ) (Open Access)

Published
2022

10. Indications and utility of cardiac genetic testing in athletes

Author

Castelletti, S., Gray, B.R., Basso, Cristina, Behr, E.R., Crotti, L., Elliott, Perry M., Loeys, B.L., Wilde, A.A., Papadakis, Michael, Castelletti, S., Gray, B.R., Basso, Cristina, Behr, E.R., Crotti, L., Elliott, Perry M., Loeys, B.L., Wilde, A.A., and Papadakis, Michael

Abstract

Contains fulltext : 253725.pdf (Publisher’s version ) (Open Access)

Published
2022

11. The European Heart Journal:fulfilling the mission

Author

Crea, Filippo, Badimon, Lina, Berry, Colin, De Caterina, Raffaele, Elliott, Perry M., Hatala, Robert, Libby, Peter, Linde, Cecilia, Tybjaerg-Hansen, Anne, Crea, Filippo, Badimon, Lina, Berry, Colin, De Caterina, Raffaele, Elliott, Perry M., Hatala, Robert, Libby, Peter, Linde, Cecilia, and Tybjaerg-Hansen, Anne

Abstract

In September 2020, the new Editors of the European Heart Journal (EHJ) wrote the following in their inaugural editorial: "The fundamental mission of the Journal remains the reduction of the global burden of cardiovascular disease. We aspire to advance this aim by worldwide teamwork to communicate practice-changing research, inspire clinical cardiologists, and pursue rigour and transparency in the application of science at the service of human health. The Journal will strive to lead the field in its impact, influence, and reach". After more than one year of experience the Editors hope the cardiological community will agree that they are fulfilling this mission. As stewards of the EHJ, the Editor's primary goal is not solely to achieve a high Impact Factor (which attests to the scientific quality and influence of our publications) but also to elevate the practice of cardiovascular medicine worldwide. Accordingly, various initiatives of the EHJ strive to strengthen further links among Editors, Authors, Reviewers and Readers through a series of coordinated and diverse activities, including webinars, active social media presence, and active participation at congresses worldwide. The Editors are proud to serve one of the most important scientific journals in cardiovascular medicine.

Published
2022

12. 2021 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy:Developed by the Task Force on cardiac pacing and cardiac resynchronization therapy of the European Society of Cardiology (ESC) With the special contribution of the European Heart Rhythm Association (EHRA)

Author

Glikson, Michael, Nielsen, Jens Cosedis, Kronborg, Mads Brix, Michowitz, Yoav, Auricchio, Angelo, Barbash, Israel Moshe, Barrabés, José A., Boriani, Giuseppe, Braunschweig, Frieder, Brignole, Michele, Burri, Haran, Coats, Andrew J. S., Deharo, Jean-Claude, Delgado, Victoria, Diller, Gerhard-Paul, Israel, Carsten W, Keren, Andre, Knops, Reinoud E., Kotecha, Dipak, Leclercq, Christophe, Merkely, Béla, Starck, Christoph, Thylén, Ingela, Tolosana, José Maria, Leyva, Francisco, Linde, Cecilia, Abdelhamid, Magdy, Aboyans, Victor, Arbelo, Elena, Asteggiano, Riccardo, Barón-Esquivias, Gonzalo, Bauersachs, Johann, Biffi, Mauro, Birgersdotter-Green, Ulrika, Bongiorni, Maria Grazia, Borger, Michael A, Čelutkienė, Jelena, Cikes, Maja, Daubert, Jean-Claude, Drossart, Inga, Ellenbogen, Kenneth, Elliott, Perry M, Fabritz, Larissa, Falk, Volkmar, Fauchier, Laurent, Fernández-Avilés, Francisco, Foldager, Dan, Gadler, Fredrik, De Vinuesa, Pastora Gallego Garcia, Gorenek, Bulent, Guerra, Jose M., Hermann Haugaa, Kristina, Hendriks, Jeroen, Kahan, Thomas, Katus, Hugo A, Konradi, Aleksandra, Koskinas, Konstantinos C, Law, Hannah, Lewis, Basil S, Linker, Nicholas John, Løchen, Maja-Lisa, Lumens, Joost, Mascherbauer, Julia, Mullens, Wilfried, Nagy, Klaudia Vivien, Prescott, Eva, Raatikainen, Pekka, Rakisheva, Amina, Reichlin, Tobias, Ricci, Renato Pietro, Shlyakhto, Evgeny, Sitges, Marta, Sousa-Uva, Miguel, Sutton, Richard, Suwalski, Piotr, Svendsen, Jesper Hastrup, Touyz, Rhian M, Van Gelder, Isabelle C, Vernooy, Kevin, Waltenberger, Johannes, Whinnett, Zachary, Witte, Klaus K., Glikson, Michael, Nielsen, Jens Cosedis, Kronborg, Mads Brix, Michowitz, Yoav, Auricchio, Angelo, Barbash, Israel Moshe, Barrabés, José A., Boriani, Giuseppe, Braunschweig, Frieder, Brignole, Michele, Burri, Haran, Coats, Andrew J. S., Deharo, Jean-Claude, Delgado, Victoria, Diller, Gerhard-Paul, Israel, Carsten W, Keren, Andre, Knops, Reinoud E., Kotecha, Dipak, Leclercq, Christophe, Merkely, Béla, Starck, Christoph, Thylén, Ingela, Tolosana, José Maria, Leyva, Francisco, Linde, Cecilia, Abdelhamid, Magdy, Aboyans, Victor, Arbelo, Elena, Asteggiano, Riccardo, Barón-Esquivias, Gonzalo, Bauersachs, Johann, Biffi, Mauro, Birgersdotter-Green, Ulrika, Bongiorni, Maria Grazia, Borger, Michael A, Čelutkienė, Jelena, Cikes, Maja, Daubert, Jean-Claude, Drossart, Inga, Ellenbogen, Kenneth, Elliott, Perry M, Fabritz, Larissa, Falk, Volkmar, Fauchier, Laurent, Fernández-Avilés, Francisco, Foldager, Dan, Gadler, Fredrik, De Vinuesa, Pastora Gallego Garcia, Gorenek, Bulent, Guerra, Jose M., Hermann Haugaa, Kristina, Hendriks, Jeroen, Kahan, Thomas, Katus, Hugo A, Konradi, Aleksandra, Koskinas, Konstantinos C, Law, Hannah, Lewis, Basil S, Linker, Nicholas John, Løchen, Maja-Lisa, Lumens, Joost, Mascherbauer, Julia, Mullens, Wilfried, Nagy, Klaudia Vivien, Prescott, Eva, Raatikainen, Pekka, Rakisheva, Amina, Reichlin, Tobias, Ricci, Renato Pietro, Shlyakhto, Evgeny, Sitges, Marta, Sousa-Uva, Miguel, Sutton, Richard, Suwalski, Piotr, Svendsen, Jesper Hastrup, Touyz, Rhian M, Van Gelder, Isabelle C, Vernooy, Kevin, Waltenberger, Johannes, Whinnett, Zachary, and Witte, Klaus K.

Published
2022

13. Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features

Author

Team Medisch, Genetica, Circulatory Health, Ghidoni, Alice, Elliott, Perry M, Syrris, Petros, Calkins, Hugh, James, Cynthia A, Judge, Daniel P, Murray, Brittney, Barc, Julien, Probst, Vincent, Schott, Jean-Jacques, Song, Jiang-Ping, Hauer, Richard N W, Hoorntje, Edgar T, van Tintelen, J Peter, Schulze-Bahr, Eric, Hamilton, Robert M, Mittal, Kirti, Semsarian, Christopher, Behr, Elijah R, Ackerman, Michael J, Basso, Cristina, Parati, Gianfranco, Gentilini, Davide, Kotta, Maria-Christina, Mayosi, Bongani M, Schwartz, Peter J, Crotti, Lia, Team Medisch, Genetica, Circulatory Health, Ghidoni, Alice, Elliott, Perry M, Syrris, Petros, Calkins, Hugh, James, Cynthia A, Judge, Daniel P, Murray, Brittney, Barc, Julien, Probst, Vincent, Schott, Jean-Jacques, Song, Jiang-Ping, Hauer, Richard N W, Hoorntje, Edgar T, van Tintelen, J Peter, Schulze-Bahr, Eric, Hamilton, Robert M, Mittal, Kirti, Semsarian, Christopher, Behr, Elijah R, Ackerman, Michael J, Basso, Cristina, Parati, Gianfranco, Gentilini, Davide, Kotta, Maria-Christina, Mayosi, Bongani M, Schwartz, Peter J, and Crotti, Lia

Published
2021

14. The genetic architecture of Plakophilin 2 cardiomyopathy

Author

Dries, Annika M, Kirillova, Anna, Reuter, Chloe M, Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A, Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D H, Nussbaum, Robert L, Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M, Elliott, Perry M, Syrris, Petros, van Tintelen, J Peter, et al, Dries, Annika M, Kirillova, Anna, Reuter, Chloe M, Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A, Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D H, Nussbaum, Robert L, Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M, Elliott, Perry M, Syrris, Petros, van Tintelen, J Peter, and et al

Abstract

Purpose The genetic architecture of Plakophilin 2 (PKP2) cardiomyopathy can inform our understanding of its variant pathogenicity and protein function. Methods We assess the gene-wide and regional association of truncating and missense variants in PKP2 with arrhythmogenic cardiomyopathy (ACM), and arrhythmogenic right ventricular cardiomyopathy (ARVC) specifically. A discovery data set compares genetic testing requisitions to gnomAD. Validation is performed in a rigorously phenotyped definite ARVC cohort and non-ACM individuals in the Geisinger MyCode cohort. Results The etiologic fraction (EF) of ACM-related diagnoses from truncating variants in PKP2 is significant (0.85 [0.80,0.88], p < 2 × 10−16), increases for ARVC specifically (EF = 0.96 [0.94,0.97], p < 2 × 10−16), and is highest in definite ARVC versus non-ACM individuals (EF = 1.00 [1.00,1.00], p < 2 × 10−16). Regions of missense variation enriched for ACM probands include known functional domains and the C-terminus, which was not previously known to contain a functional domain. No regional enrichment was identified for truncating variants. Conclusion This multicohort evaluation of the genetic architecture of PKP2 demonstrates the specificity of PKP2 truncating variants for ARVC within the ACM disease spectrum. We identify the PKP2 C-terminus as a potential functional domain and find that truncating variants likely cause disease irrespective of transcript position.

Published
2021

15. Cryptic splice-altering variants in MYBPC3 are a prevalent cause of hypertrophic cardiomyopathy

Author

Lopes, Luis R., Barbosa, Pedro, Torrado, Mario, Quinn, Ellie, Merino, Ana, Ocha, Juan Pablo, Jager, Joanna, Futema, Marta, Carmo-Fonseca, María, Montserrat, Lorenzo, Syrris, Petros, Elliott, Perry M., Lopes, Luis R., Barbosa, Pedro, Torrado, Mario, Quinn, Ellie, Merino, Ana, Ocha, Juan Pablo, Jager, Joanna, Futema, Marta, Carmo-Fonseca, María, Montserrat, Lorenzo, Syrris, Petros, and Elliott, Perry M.

Published
2020

16. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

Author

Salazar-Mendiguchía, Joel, Ochoa, Juan Pablo, Palomino-Doza, Julian, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M, Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E, Mogollón, M Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier Jr., Arsonval, Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., Monserrat, Lorenzo, Salazar-Mendiguchía, Joel, Ochoa, Juan Pablo, Palomino-Doza, Julian, Domínguez, Fernando, Díez-López, Carles, Akhtar, Mohammed, Ramiro-León, Soraya, Clemente, María M, Pérez-Cejas, Antonia, Robledo, María, Gómez-Díaz, Iria, Peña-Peña, María Luisa, Climent, Vicente, Salmerón-Martínez, Francisco, Hernández, Celestino, García-Granja, Pablo E, Mogollón, M Victoria, Cárdenas-Reyes, Ivonne, Cicerchia, Marcos, García-Giustiniani, Diego, Lamounier Jr., Arsonval, Gil-Fournier, Belén, Díaz-Flores, Felícitas, Salguero, Rafael, Santomé, Luis, Syrris, Petros, Olivé, Montse, García-Pavía, Pablo, Ortiz-Genga, Martín, Elliott, Perry M., and Monserrat, Lorenzo

Abstract

Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the development of HCM. TRIM63 was sequenced by next generation sequencing in 4867 index cases with a clinical diagnosis of HCM and in 3628 probands with other cardiomyopathies. Additionally, 3136 index cases with familial cardiovascular diseases other than cardiomyopathy (mainly channelopathies and aortic diseases) were used as controls. Sixteen index cases with rare homozygous or compound heterozygous variants in TRIM63 (15 HCM and one restrictive cardiomyopathy) were included. No homozygous or compound heterozygous were identified in the control population. Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy. The mean age at diagnosis was 35 years (range 15-69). Fifty per cent of patients had concentric left ventricular hypertrophy (LVH) and 45% were asymptomatic at the moment of the first examination. Significant degrees of late gadolinium enhancement were detected in 80% of affected individuals, and 20% of patients had left ventricular (LV) systolic dysfunction. Fifty per cent had non-sustained ventricular tachycardia. Twenty per cent of patients suffered an adverse cerebrovascular event (20%). TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction.

Published
2020

18. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Author

Onderzoek Precision medicine, Team Medisch, Circulatory Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Lopez-Sainz, Angela, Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B, Espinosa, María Ángeles, Beinart, Roy, Quarta, Giovanni, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M, Bilinska, Zofia, Muir, Alison R, Roberts, Angharad M, Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I, Bento, Dina, Jensen, Morten K, Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Mogensen, Jens, Kaski, Juan Pablo, Arad, Michael, Brugada, Ramon, Asselbergs, Folkert W, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M, Garcia-Pavia, Pablo, European Genetic Cardiomyopathies Initiative Investigators, Onderzoek Precision medicine, Team Medisch, Circulatory Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Lopez-Sainz, Angela, Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B, Espinosa, María Ángeles, Beinart, Roy, Quarta, Giovanni, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M, Bilinska, Zofia, Muir, Alison R, Roberts, Angharad M, Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I, Bento, Dina, Jensen, Morten K, Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Mogensen, Jens, Kaski, Juan Pablo, Arad, Michael, Brugada, Ramon, Asselbergs, Folkert W, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M, Garcia-Pavia, Pablo, and European Genetic Cardiomyopathies Initiative Investigators

Published
2020

19. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts

Author

Germain, Dominique P, Arad, Michael, Burlina, Alessandro, Elliott, Perry M, Falissard, Bruno, Feldt-Rasmussen, Ulla, Hilz, Max J, Hughes, Derralynn A, Ortiz, Alberto, Wanner, Christoph, Weidemann, Frank, Spada, Marco, Germain, Dominique P, Arad, Michael, Burlina, Alessandro, Elliott, Perry M, Falissard, Bruno, Feldt-Rasmussen, Ulla, Hilz, Max J, Hughes, Derralynn A, Ortiz, Alberto, Wanner, Christoph, Weidemann, Frank, and Spada, Marco

Abstract

BACKGROUND: Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients.METHODS: A comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type.RESULTS: Clinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease.CONCLUSIONS: This review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results.

Published
2019

20. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts

Author

Germain, Dominique P, Arad, Michael, Burlina, Alessandro, Elliott, Perry M, Falissard, Bruno, Feldt-Rasmussen, Ulla, Hilz, Max J, Hughes, Derralynn A, Ortiz, Alberto, Wanner, Christoph, Weidemann, Frank, Spada, Marco, Germain, Dominique P, Arad, Michael, Burlina, Alessandro, Elliott, Perry M, Falissard, Bruno, Feldt-Rasmussen, Ulla, Hilz, Max J, Hughes, Derralynn A, Ortiz, Alberto, Wanner, Christoph, Weidemann, Frank, and Spada, Marco

Abstract

BACKGROUND: Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients.METHODS: A comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type.RESULTS: Clinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease.CONCLUSIONS: This review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results.

Published
2019

21. Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Author

Elliott, Perry M, Anastasakis, Aris, Asimaki, Angeliki, Basso, Cristina, Bauce, Barbara, Brooke, Matthew A, Calkins, Hugh, Corrado, Domenico, Duru, Firat, Green, Kathleen J, Judge, Daniel P, Kelsell, David, Lambiase, Pier D, McKenna, William J, Pilichou, Kalliopi, Protonotarios, Alexandros, Saffitz, Jeffrey E, Syrris, Petros, Tandri, Hari, Te Riele, Anneline, Thiene, Gaetano, Tsatsopoulou, Adalena, van Tintelen, J Peter, Elliott, Perry M, Anastasakis, Aris, Asimaki, Angeliki, Basso, Cristina, Bauce, Barbara, Brooke, Matthew A, Calkins, Hugh, Corrado, Domenico, Duru, Firat, Green, Kathleen J, Judge, Daniel P, Kelsell, David, Lambiase, Pier D, McKenna, William J, Pilichou, Kalliopi, Protonotarios, Alexandros, Saffitz, Jeffrey E, Syrris, Petros, Tandri, Hari, Te Riele, Anneline, Thiene, Gaetano, Tsatsopoulou, Adalena, and van Tintelen, J Peter

Abstract

It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy (ARVC) and more than 20 years since the first reports establishing desmosomal gene mutations as a major cause of the disease. Early advances in the understanding of the clinical, pathological and genetic architecture of ARVC resulted in consensus diagnostic criteria, which proved to be sensitive but not entirely specific for the disease. In more recent years, clinical and genetic data from families and the recognition of a much broader spectrum of structural disorders affecting both ventricles and associated with a propensity to ventricular arrhythmia have raised many questions about pathogenesis, disease terminology and clinical management. In this paper, we present the conclusions of an expert round table that aimed to summarise the current state of the art in arrhythmogenic cardiomyopathies and to define future research priorities.

Published
2019

22. Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report

Author

UMC Utrecht, Team Onderzoek, Genetica, Elliott, Perry M., Anastasakis, Aris, Asimaki, Angeliki, Basso, Cristina, Bauce, Barbara, Brooke, Matthew A., Calkins, Hugh, Corrado, Domenico, Duru, Firat, Green, Kathleen J., Judge, Daniel P., Kelsell, David, Lambiase, Pier D., McKenna, William J., Pilichou, Kalliopi, Protonotarios, Alexandros, Saffitz, Jeffrey E., Syrris, Petros, Tandri, Hari, Te Riele, Anneline, Thiene, Gaetano, Tsatsopoulou, Adalena, van Tintelen, J. Peter, UMC Utrecht, Team Onderzoek, Genetica, Elliott, Perry M., Anastasakis, Aris, Asimaki, Angeliki, Basso, Cristina, Bauce, Barbara, Brooke, Matthew A., Calkins, Hugh, Corrado, Domenico, Duru, Firat, Green, Kathleen J., Judge, Daniel P., Kelsell, David, Lambiase, Pier D., McKenna, William J., Pilichou, Kalliopi, Protonotarios, Alexandros, Saffitz, Jeffrey E., Syrris, Petros, Tandri, Hari, Te Riele, Anneline, Thiene, Gaetano, Tsatsopoulou, Adalena, and van Tintelen, J. Peter

Published
2019

23. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D.H., Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., and Jongbloed, Jan D.H.

Published
2018

24. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D.H., Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., and Jongbloed, Jan D.H.

Published
2018

25. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D.H., Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., and Jongbloed, Jan D.H.

Published
2018

26. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D.H., Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., and Jongbloed, Jan D.H.

Published
2018

27. European expert consensus statement on therapeutic goals in Fabry disease

Author

Wanner, Christoph, Arad, Michael, Baron, Ralf, Burlina, Alessandro, Elliott, Perry M, Feldt-Rasmussen, Ulla, Fomin, Victor V, Germain, Dominique P, Hughes, Derralynn A, Jovanovic, Ana, Kantola, Ilkka, Linhart, Aleš, Mignani, Renzo, Monserrat, Lorenzo, Namdar, Mehdi, Nowak, Albina, Oliveira, João-Paulo, Ortiz, Alberto, Pieroni, Maurizio, Spada, Marco, Tylki-Szymańska, Anna, Tøndel, Camilla, Viana-Baptista, Miguel, Weidemann, Frank, Hilz, Max J, Wanner, Christoph, Arad, Michael, Baron, Ralf, Burlina, Alessandro, Elliott, Perry M, Feldt-Rasmussen, Ulla, Fomin, Victor V, Germain, Dominique P, Hughes, Derralynn A, Jovanovic, Ana, Kantola, Ilkka, Linhart, Aleš, Mignani, Renzo, Monserrat, Lorenzo, Namdar, Mehdi, Nowak, Albina, Oliveira, João-Paulo, Ortiz, Alberto, Pieroni, Maurizio, Spada, Marco, Tylki-Szymańska, Anna, Tøndel, Camilla, Viana-Baptista, Miguel, Weidemann, Frank, and Hilz, Max J

Abstract

BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation.METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion.RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis.CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.

Published
2018

28. Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

Author

Nunn, Laurence M, Lopes, Luis R, Syrris, Petros, Murphy, Cian, Plagnol, Vincent, Firman, Eileen, Dalageorgou, Chrysoula, Zorio, Esther, Domingo, Diana, Murday, Victoria, Findlay, Iain, Duncan, Alexis, Carr-White, Gerry, Robert, Leema, Bueser, Teofila, Langman, Caroline, Fynn, Simon P, Goddard, Martin, White, Anne, Bundgård, Henning, Ferrero-Miliani, Laura, Wheeldon, Nigel, Suvarna, Simon K, O'Beirne, Aliceson, Lowe, Martin D, McKenna, William J, Elliott, Perry M, Lambiase, Pier D, Nunn, Laurence M, Lopes, Luis R, Syrris, Petros, Murphy, Cian, Plagnol, Vincent, Firman, Eileen, Dalageorgou, Chrysoula, Zorio, Esther, Domingo, Diana, Murday, Victoria, Findlay, Iain, Duncan, Alexis, Carr-White, Gerry, Robert, Leema, Bueser, Teofila, Langman, Caroline, Fynn, Simon P, Goddard, Martin, White, Anne, Bundgård, Henning, Ferrero-Miliani, Laura, Wheeldon, Nigel, Suvarna, Simon K, O'Beirne, Aliceson, Lowe, Martin D, McKenna, William J, Elliott, Perry M, and Lambiase, Pier D

Abstract

AIMS: The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible.METHODS AND RESULTS: To determine the feasibility and diagnostic yield of targeted exome sequencing deoxyribonucleic acid (DNA) was isolated from 59 SADS victims (mean age 25 years, range 1-51 years). Targeted exome sequencing of 135 genes associated with cardiomyopathies and ion channelopathies was performed on the Illumina HiSeq2000 platform. Non-synonymous, loss-of-function, and splice-site variants with a minor allele frequency <0.02% in the NHLBI exome sequencing project and an internal set of control exomes were prioritized for analysis followed by <0.5% frequency threshold secondary analysis. First-degree relatives were offered clinical screening for inherited cardiac conditions. Seven probands (12%) carried very rare (<0.02%) or novel non-sense candidate mutations and 10 probands (17%) had previously published rare (0.02-0.5%) candidate mutations-a total yield of 29%. Co-segregation fully confirmed two private SCN5A Na channel mutations. Variants of unknown significance were detected in a further 34% of probands.CONCLUSION: Molecular autopsy using targeted exome sequencing has a relatively low diagnostic yield of very rare potentially disease causing mutations. Candidate pathogenic variants with a higher frequency in control populations are relatively common and should be interpreted with caution.

Published
2016

29. 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy

Author

Brignole, Michele, Auricchio, Angelo, Baron-Esquivias, Gonzalo, Bordachar, Pierre, Boriani, Giuseppe, Breithardt, Ole-A, Cleland, John, Deharo, Jean-Claude, Delgado, Victoria, Elliott, Perry M, Gorenek, Bulent, Israel, Carsten W, Leclercq, Christophe, Linde, Cecilia, Mont, Lluís, Padeletti, Luigi, Sutton, Richard, Vardas, Panos E, Brignole, Michele, Auricchio, Angelo, Baron-Esquivias, Gonzalo, Bordachar, Pierre, Boriani, Giuseppe, Breithardt, Ole-A, Cleland, John, Deharo, Jean-Claude, Delgado, Victoria, Elliott, Perry M, Gorenek, Bulent, Israel, Carsten W, Leclercq, Christophe, Linde, Cecilia, Mont, Lluís, Padeletti, Luigi, Sutton, Richard, and Vardas, Panos E

Published
2014

30. 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy : The Task Force on cardiac pacing and resynchronization therapy of the European Society of Cardiology (ESC). Developed in collaboration with the European Heart Rhythm Association (EHRA)

Author

Brignole, Michele, Auricchio, Angelo, Baron-Esquivias, Gonzalo, Bordachar, Pierre, Boriani, Giuseppe, Breithardt, Ole-A, Cleland, John, Deharo, Jean-Claude, Delgado, Victoria, Elliott, Perry M, Gorenek, Bulent, Israel, Carsten W, Leclercq, Christophe, Linde, Cecilia, Mont, Lluís, Padeletti, Luigi, Sutton, Richard, Vardas, Panos E, Brignole, Michele, Auricchio, Angelo, Baron-Esquivias, Gonzalo, Bordachar, Pierre, Boriani, Giuseppe, Breithardt, Ole-A, Cleland, John, Deharo, Jean-Claude, Delgado, Victoria, Elliott, Perry M, Gorenek, Bulent, Israel, Carsten W, Leclercq, Christophe, Linde, Cecilia, Mont, Lluís, Padeletti, Luigi, Sutton, Richard, and Vardas, Panos E

Abstract

Carina Blomström-Lundqvist (Department of Medical Sciences, Cardiology-Arrhythmia, Uppsala University, Uppsala, Sweden) contributed to this study.

Published
2013
Full Text
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31. 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy : The Task Force on cardiac pacing and resynchronization therapy of the European Society of Cardiology (ESC). Developed in collaboration with the European Heart Rhythm Association (EHRA)

Author

Brignole, Michele, Auricchio, Angelo, Baron-Esquivias, Gonzalo, Bordachar, Pierre, Boriani, Giuseppe, Breithardt, Ole-A, Cleland, John, Deharo, Jean-Claude, Delgado, Victoria, Elliott, Perry M, Gorenek, Bulent, Israel, Carsten W, Leclercq, Christophe, Linde, Cecilia, Mont, Lluís, Padeletti, Luigi, Sutton, Richard, Vardas, Panos E, Brignole, Michele, Auricchio, Angelo, Baron-Esquivias, Gonzalo, Bordachar, Pierre, Boriani, Giuseppe, Breithardt, Ole-A, Cleland, John, Deharo, Jean-Claude, Delgado, Victoria, Elliott, Perry M, Gorenek, Bulent, Israel, Carsten W, Leclercq, Christophe, Linde, Cecilia, Mont, Lluís, Padeletti, Luigi, Sutton, Richard, and Vardas, Panos E

Abstract

Carina Blomström-Lundqvist (Department of Medical Sciences, Cardiology-Arrhythmia, Uppsala University, Uppsala, Sweden) contributed to this study.

Published
2013
Full Text
View/download PDF

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