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1. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Author

Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott, Protonotarios, Alexandro, Bariani, Riccardo, Cappelletto, Chiara, Pavlou, Menelao, García-García, Alba, Cipriani, Alberto, Protonotarios, Ioanni, Rivas, Adrian, Wittenberg, Regitze, Graziosi, Maddalena, Xylouri, Zafeirenia, Larrañaga-Moreira, José M, de Luca, Antonio, Celeghin, Rudy, Pilichou, Kalliopi, Bakalakos, Athanasio, Lopes, Luis Rocha, Savvatis, Konstantino, Stolfo, Davide, Dal Ferro, Matteo, Merlo, Marco, Basso, Cristina, Freire, Javier Limere, Rodriguez-Palomares, Jose F, Kubo, Toru, Ripoll-Vera, Toma, Barriales-Villa, Roberto, Antoniades, Loizo, Mogensen, Jen, Garcia-Pavia, Pablo, Wahbi, Karim, Biagini, Elena, Anastasakis, Ari, Tsatsopoulou, Adalena, Zorio, Esther, Gimeno, Juan R, Garcia-Pinilla, Jose Manuel, Syrris, Petro, Sinagra, Gianfranco, Bauce, Barbara, and Elliott, Perry M

Subjects
Arrhythmogenic Right Ventricular Dysplasia/genetics, Arrhythmogenic right ventricular cardiomyopathy, Genotype, Risk stratification, Sudden cardiac death, Ventricular arrhythmia, Arrhythmias, Cardiac, Risk Assessment, Death, Sudden, Cardiac, Risk Factors, Humans, Cardiology and Cardiovascular Medicine, Death, Sudden, Cardiac/epidemiology, Arrhythmogenic Right Ventricular Dysplasia
Abstract

Aims To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6.0 (3.1,12.5) years, 100 patients (18%) experienced the primary VA outcome (sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or sudden cardiac death) corresponding to an annual event rate of 2.6% [95% confidence interval (CI) 1.9–3.3]. Risk estimates for VA using the 2019 ARVC risk model showed reasonable discriminative ability but with overestimation of risk. The ARVC risk model was compared in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) (n = 79, 14%); other desmosomal (n = 59, 11%); and gene elusive (n = 160, 29%). Discrimination and calibration were highest for PKP2 and lowest for the gene-elusive group. Univariable analyses revealed the variable performance of individual clinical risk markers in the different gene groups, e.g. right ventricular dimensions and systolic function are significant risk markers in PKP2 but not in DSP patients and the opposite is true for left ventricular systolic function. Conclusion The 2019 ARVC risk model performs reasonably well in gene-positive ARVC (particularly for PKP2) but is more limited in gene-elusive patients. Genotype should be included in future risk models for ARVC.

Published
2022
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2. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Author

Gabrielle Norrish, Tao Ding, Ella Field, Elena Cervi, Lidia Ziółkowska, Iacopo Olivotto, Diala Khraiche, Giuseppe Limongelli, Aris Anastasakis, Robert Weintraub, Elena Biagini, Luca Ragni, Terrence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrián Fernández, Chiara Marrone, Regina Bökenkamp, Anwar Baban, Peter Kubus, Piers E.F. Daubeney, Georgia Sarquella-Brugada, Sergi Cesar, Sabine Klaassen, Tiina H. Ojala, Vinay Bhole, Constancio Medrano, Orhan Uzun, Elspeth Brown, Ferran Gran, Gianfranco Sinagra, Francisco J. Castro, Graham Stuart, Gabriele Vignati, Hirokuni Yamazawa, Roberto Barriales-Villa, Luis Garcia-Guereta, Satish Adwani, Katie Linter, Tara Bharucha, Pablo Garcia-Pavia, Ana Siles, Torsten B. Rasmussen, Margherita Calcagnino, Caroline B. Jones, Hans De Wilde, Toru Kubo, Tiziana Felice, Anca Popoiu, Jens Mogensen, Sujeev Mathur, Fernando Centeno, Zdenka Reinhardt, Sylvie Schouvey, Costas O’Mahony, Rumana Z. Omar, Perry M. Elliott, Juan Pablo Kaski, Institut Català de la Salut, [Norrish G] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom. Institute of Cardiovascular Sciences, University College London, United Kingdom. [Ding T] Department of Statistical Science, University College London, United Kingdom. [Field E, Cervi E] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom. [Ziółkowska L] The Children’s Memorial Health Institute, Warsaw, Poland. [Olivotto I] Careggi University Hopsital, Florence, Italy. [Gran F] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents, Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Ari, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, Mcleod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E F, Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H, Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J, Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Lui, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B, Calcagnino, Margherita, Jones, Caroline B, De Wilde, Han, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jen, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O'Mahony, Costa, Omar, Rumana Z, Elliott, Perry M, and Kaski, Juan Pablo

Subjects
Hypertrophy, Left Ventricular/complications, sistema cardiovascular::corazón::ventrículos cardíacos [ANATOMÍA], Heart Ventricles, FEATURES, enfermedades cardiovasculares::enfermedades cardíacas::paro cardíaco::muerte súbita cardíaca [ENFERMEDADES], Cardiomyopathy, Hypertrophic/complications, CHILDREN, Heart Ventricles/diagnostic imaging, DIAGNOSIS, Cor - Hipertròfia - Complicacions, Risk Assessment, LONG-TERM OUTCOMES, 3123 Gynaecology and paediatrics, Risk Factors, death, Physiology (medical), ADOLESCENTS, human, cardiovascular diseases, humans, death, sudden, Death, Sudden, Cardiac/epidemiology, Retrospective Studies, sudden, child, IDENTIFICATION, Mort sobtada, adult, Defibrillators, Implantable/adverse effects, Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic [DISEASES], Cardiomyopathy, Hypertrophic, Cardiovascular Diseases::Heart Diseases::Heart Arrest::Death, Sudden, Cardiac [DISEASES], hypertrophic cardiomyopathy, Defibrillators, Implantable, heart ventricle, enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica [ENFERMEDADES], Death, Sudden, Cardiac, Cardiovascular and Metabolic Diseases, 3121 General medicine, internal medicine and other clinical medicine, RISK-FACTORS, SURVIVAL, cardiovascular system, Hypertrophy, Left Ventricular, hypertrophy, Cardiology and Cardiovascular Medicine, TASK-FORCE, Cor - Ventricle esquerre, Cardiovascular System::Heart::Heart Ventricles [ANATOMY]
Abstract

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort. Methods: The study cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed with HCM (1–16 years) from the International Paediatric Hypertrophic Cardiomyopathy Consortium. Anonymized, noninvasive clinical data were collected from baseline evaluation and follow-up, and 5-year estimated SCD risk was calculated (HCM Risk-Kids). Results: MLVWT Z score was Z scores were associated with heart failure symptoms, unexplained syncope, left ventricular outflow tract obstruction, left atrial dilatation, and nonsustained ventricular tachycardia. One hundred twenty-two patients (71.3%) with MLVWT Z score ≥20 had coexisting risk factors for SCD. Over a median follow-up of 4.9 years (interquartile range, 2.3–9.3), 115 (10.7%) had an SCD event. Freedom from SCD event at 5 years for those with MLVWT Z scores Z score, peaking at Z score +23. The presence of coexisting risk factors had a summative effect on risk. Conclusions: In children with HCM, an inverted U-shaped relationship exists between left ventricular hypertrophy and estimated SCD risk. The presence of additional risk factors has a summative effect on risk. While MLVWT is important for risk stratification, it should not be used either as a binary variable or in isolation to guide implantable cardioverter defibrillator implantation decisions in children with HCM.

Published
2022
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3. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

Author

Michel Komajda, Giuseppe Limongelli, James C. Moon, Stephane Heymans, Eloisa Arbustini, Perry M. Elliott, Petar M. Seferovic, Yigal M. Pinto, Aristides Anastasakis, Alida L.P. Caforio, Yehuda Adler, Petronella G. Pieper, José Luis Zamorano, Massimo Imazio, Karin Klingel, Pascal de Groote, Jens Mogensen, Michael Böhm, P. Charron, Aleš Linhart, Stephan Schueler, Juan R. Gimeno, Denis Duboc, Cardiovascular Centre (CVC), Pinto, Yigal M., Elliott, Perry M., Arbustini, Eloisa, Adler, Yehuda, Anastasakis, Ari, Bã¶hm, Michael, Duboc, Deni, Gimeno, Juan, De Groote, Pascal, Imazio, Massimo, Heymans, Stephane, Klingel, Karin, Komajda, Michel, Limongelli, Giuseppe, Linhart, Ale, Mogensen, Jen, Moon, Jame, Pieper, Petronella G., Seferovic, Petar M., Schueler, Stephan, Zamorano, Jose L., Caforio, Alida L. P., Charron, Philippe, ACS - Amsterdam Cardiovascular Sciences, Cardiology, Cardiologie, RS: CARIM - R2.02 - Cardiomyopathy, and MUMC+: MA Med Staf Spec Cardiologie (9)

Subjects
Cardiomyopathy, Dilated, medicine.medical_specialty, Myocarditis, Peripartum cardiomyopathy, Cardiomyopathy, Dilated cardiomyopathy, RELATIVES, Heart failure, Position statement, 030204 cardiovascular system & hematology, Gene mutation, DIAGNOSIS, Multimodal Imaging, LAMIN A/C MUTATION, Diagnosis, Differential, Cardiomyopathies/diagnosis, 03 medical and health sciences, 0302 clinical medicine, PERIPARTUM CARDIOMYOPATHY, Risk Factors, Internal medicine, medicine, MANAGEMENT, Humans, Clinical significance, 030212 general & internal medicine, RISK, HEART-FAILURE ASSOCIATION, business.industry, Dilated cardiomyopathy Position statement Heart failure lamin a/c mutation heart-failure association european-society peripartum cardiomyopathy muscular-dystrophy gene-mutations risk diagnosis management relatives Cardiovascular System & Cardiology, medicine.disease, EUROPEAN-SOCIETY, MUSCULAR-DYSTROPHY, Pedigree, Early Diagnosis, Cardiomyopathy, Dilated/diagnosis, Cardiology, Differential diagnosis, Cardiology and Cardiovascular Medicine, business, Cardiomyopathies, Myocarditis/diagnosis, Multimodal Imaging/methods, GENE-MUTATIONS
Abstract

In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis and the institution of potential preventative measures. We also provide practical hints to identify subsets of the DCM syndrome where aetiology directed management has great clinical relevance.

Published
2016
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4. Wytyczne ESC dotyczace rozpoznawania i postȩpowania w kardiomiopatii przerostowej w 2014 roku

Author

Elliott Perry, M, Anastasakis, Aris, Borger Michael, A., Borggrefe, Martin, Cecchi, Franco, Charron, Philippe, Hagege Albert Alain, Lafont, Antoine, Limongelli, Giuseppe, Mahrholdt, Heiko, Mckenna William, J., Mogensen, Jens, Nihoyannopoulos, Petros, Nistri, Stefano, Pieper Petronella, G., Pieske, Burkert, Rapezzi, Claudio, Rutten Frans, H., Tillmanns, Christoph, Watkins, Hugh, Elliott, Perry M, Anastasakis, Ari, Borger, Michael A., Borggrefe, Martin, Cecchi, Franco, Charron, Philippe, Hagege, Albert Alain, Lafont, Antoine, Limongelli, Giuseppe, Mahrholdt, Heiko, Mckenna, William J., Mogensen, Jen, Nihoyannopoulos, Petro, Nistri, Stefano, Pieper, Petronella G., Pieske, Burkert, Rapezzi, Claudio, Rutten, Frans H., Tillmanns, Christoph, and Watkins, Hugh

Subjects
Cardiology and Cardiovascular Medicine, NO
Abstract

Guidelines on diagnosis and management of hypertrophic cardiomyopathy

Published
2014
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