Cardiac Outcomes in Adults With Mitochondrial Diseases
Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population. We determined the incidence and searched for predictors of HF and arrhythmic MA...
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| Published in | Journal of the American College of Cardiology Vol. 80; no. 15; pp. 1421 - 1430 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
11.10.2022
Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0735-1097 1558-3597 1558-3597 |
| DOI | 10.1016/j.jacc.2022.08.716 |
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| Abstract | Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE).
We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population.
We determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases.
Over a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively.
We developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments.
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| AbstractList | Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE).
We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population.
We determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases.
Over a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively.
We developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments.
[Display omitted] AbstractBackgroundPatients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). ObjectivesWe developed prediction models to estimate the risk of HF and arrhythmic MACE in this population. MethodsWe determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases. ResultsOver a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively. ConclusionsWe developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments. Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population. We determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases. Over a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively. We developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments. Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE).BACKGROUNDPatients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE).We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population.OBJECTIVESWe developed prediction models to estimate the risk of HF and arrhythmic MACE in this population.We determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases.METHODSWe determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases.Over a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively.RESULTSOver a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively.We developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments.CONCLUSIONSWe developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments. Background: Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). Objectives: We developed prediction models to estimate the risk of HF and arrhythmic MACE in this population. Methods: We determined the incidence and searched for predictors of HF and arrhythmic MACE using Cox regression in 600 adult patients from a multicenter registry with genetically confirmed mitochondrial diseases. Results: Over a median follow-up time of 6.67 years, 29 patients (4.9%) reached the HF endpoint, including 19 hospitalizations for nonterminal HF, 2 cardiac transplantations, and 8 deaths from HF. Thirty others (5.1%) reached the arrhythmic MACE, including 21 with third-degree or type II second-degree atrioventricular blocks, 4 with sinus node dysfunction, and 5 sudden cardiac deaths. Predictors of HF were the m.3243A>G variant (HR: 4.3; 95% CI: 1.8-10.1), conduction defects (HR: 3.0; 95% CI: 1.3-6.9), left ventricular (LV) hypertrophy (HR: 2.6; 95% CI: 1.1-5.8), LV ejection fraction <50% (HR: 10.2; 95% CI: 4.6-22.3), and premature ventricular beats (HR: 4.1; 95% CI: 1.7-9.9). Independent predictors for arrhythmia were single, large-scale mtDNA deletions (HR: 4.3; 95% CI: 1.7-10.4), conduction defects (HR: 6.8; 95% CI: 3.0-15.4), and LV ejection fraction <50% (HR: 2.7; 95% CI: 1.1-7.1). C-indexes of the Cox regression models were 0.91 (95% CI: 0.88-0.95) and 0.80 (95% CI: 0.70-0.90) for the HF and arrhythmic MACE, respectively. Conclusions: We developed the first prediction models for HF and arrhythmic MACE in patients with mitochondrial diseases using genetic variant type and simple cardiac assessments. |
| Author | Béhin, Anthony Stojkovic, Tanya Berber, Nawal De Groote, Pascal Lopes, Luis Douillard, Claire Quinlivan, Ros Procaccio, Vincent Mochel, Fanny Spinazzi, Marco Tard, Céline Savvatis, Konstantinos Wahbi, Karim Vissing, Christoffer Rasmus Vissing, John Florian, Anca Fontaine, Bertrand Yilmaz, Ali Masingue, Marion Lejeune, Julie Gossios, Thomas Saadi, Malika Bécane, Henri Marc Echaniz-Laguna, Andoni Duboc, Denis Laforêt, Pascal Elliott, Perry Klouvi, Lori Stalens, Caroline Hanna, Michael G. Rahman, Mehjabin Krett, Bjørg Fayssoil, Abdallah Dhaenens, Claire-Marie Pitceathly, Robert D.S. |
| Author_xml | – sequence: 1 givenname: Konstantinos orcidid: 0000-0003-1966-1880 surname: Savvatis fullname: Savvatis, Konstantinos organization: Inherited Cardiac Conditions Unit, Barts Heart Centre, St Bartholomew’s Hospital, London, United Kingdom – sequence: 2 givenname: Christoffer Rasmus surname: Vissing fullname: Vissing, Christoffer Rasmus organization: Copenhagen Neuromuscular Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark – sequence: 3 givenname: Lori surname: Klouvi fullname: Klouvi, Lori organization: AFM Telethon, Evry, France – sequence: 4 givenname: Anca surname: Florian fullname: Florian, Anca organization: Department of Cardiology I, Division of Cardiovascular Imaging, University Hospital Münster, Münster, Germany – sequence: 5 givenname: Mehjabin surname: Rahman fullname: Rahman, Mehjabin organization: Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, United Kingdom – sequence: 6 givenname: Anthony surname: Béhin fullname: Béhin, Anthony organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France – sequence: 7 givenname: Abdallah surname: Fayssoil fullname: Fayssoil, Abdallah organization: AP-HP, Raymond Poincare University Hospital, Garches, France – sequence: 8 givenname: Marion surname: Masingue fullname: Masingue, Marion organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France – sequence: 9 givenname: Tanya surname: Stojkovic fullname: Stojkovic, Tanya organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France – sequence: 10 givenname: Henri Marc surname: Bécane fullname: Bécane, Henri Marc organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France – sequence: 11 givenname: Nawal surname: Berber fullname: Berber, Nawal organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France – sequence: 12 givenname: Fanny surname: Mochel fullname: Mochel, Fanny organization: AP-HP, Pitié-Salpêtrière Hospital, Genetics Department, Inserm UMR S975, CNRS UMR7225, ICM, Paris, France – sequence: 13 givenname: Denis surname: Duboc fullname: Duboc, Denis organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France – sequence: 14 givenname: Bertrand surname: Fontaine fullname: Fontaine, Bertrand organization: Sorbonne-Université, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Centre de Recherche en Myologie-UMR 974, Service de Neuro-Myologie, Institut de Myologie, Hôpital Universitaire Pitié-Salpêtrière, Paris, France – sequence: 15 givenname: Bjørg surname: Krett fullname: Krett, Bjørg organization: Copenhagen Neuromuscular Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark – sequence: 16 givenname: Caroline surname: Stalens fullname: Stalens, Caroline organization: AFM Telethon, Evry, France – sequence: 17 givenname: Julie surname: Lejeune fullname: Lejeune, Julie organization: AFM Telethon, Evry, France – sequence: 18 givenname: Robert D.S. surname: Pitceathly fullname: Pitceathly, Robert D.S. organization: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom – sequence: 19 givenname: Luis surname: Lopes fullname: Lopes, Luis organization: Inherited Cardiac Conditions Unit, Barts Heart Centre, St Bartholomew’s Hospital, London, United Kingdom – sequence: 20 givenname: Malika surname: Saadi fullname: Saadi, Malika organization: AP-HP, Cochin Hospital, Cardiology Department, Paris Cedex, France – sequence: 21 givenname: Thomas surname: Gossios fullname: Gossios, Thomas organization: Cardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece – sequence: 22 givenname: Vincent surname: Procaccio fullname: Procaccio, Vincent organization: Equipe Mitolab, Unité Mixte de Recherche MITOVASC, CNRS 6015, INSERM U1083, Université d'Angers, Angers, France – sequence: 23 givenname: Marco surname: Spinazzi fullname: Spinazzi, Marco organization: Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France – sequence: 24 givenname: Céline surname: Tard fullname: Tard, Céline organization: Université de Lille, INSERMU1172, Lille, France – sequence: 25 givenname: Pascal surname: De Groote fullname: De Groote, Pascal organization: Service de Cardiologie, Pôle Cardio-vasculaire et Pulmonaire, CHRU de Lille, Lille, France – sequence: 26 givenname: Claire-Marie surname: Dhaenens fullname: Dhaenens, Claire-Marie organization: Université de Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience and Cognition, Lille, France – sequence: 27 givenname: Claire surname: Douillard fullname: Douillard, Claire organization: CHU de Lille, Département d'Endocrinologie et Métabolisme, Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Huriez, Lille, France – sequence: 28 givenname: Andoni surname: Echaniz-Laguna fullname: Echaniz-Laguna, Andoni organization: Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France – sequence: 29 givenname: Ros surname: Quinlivan fullname: Quinlivan, Ros organization: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom – sequence: 30 givenname: Michael G. surname: Hanna fullname: Hanna, Michael G. organization: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom – sequence: 31 givenname: Ali surname: Yilmaz fullname: Yilmaz, Ali organization: Department of Cardiology I, Division of Cardiovascular Imaging, University Hospital Münster, Münster, Germany – sequence: 32 givenname: John surname: Vissing fullname: Vissing, John organization: Copenhagen Neuromuscular Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark – sequence: 33 givenname: Pascal surname: Laforêt fullname: Laforêt, Pascal organization: Inserm U1167, Institut Pasteur de Lille, Université de Lille 2, Lille, France – sequence: 34 givenname: Perry surname: Elliott fullname: Elliott, Perry organization: Inherited Cardiac Conditions Unit, Barts Heart Centre, St Bartholomew’s Hospital, London, United Kingdom – sequence: 35 givenname: Karim surname: Wahbi fullname: Wahbi, Karim email: karim.wahbi@cch.aphp.fr organization: AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France |
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| Cites_doi | 10.1016/j.jacc.2014.12.018 10.1016/j.amjcard.2006.07.089 10.1016/j.jacc.2008.12.013 10.1016/j.jacc.2018.10.044 10.1212/NXG.0000000000000339 10.1093/eurheartj/ehv306 10.1016/j.ijcard.2021.06.042 10.1002/sim.4780030207 10.1093/eurheartj/ehv307 10.1097/00001573-200105000-00008 10.1016/S0002-9440(10)65738-0 10.1542/peds.2006-1866 10.1038/s41586-020-2477-4 10.1093/eurjhf/hfp186 10.1136/heart.89.7.791 10.1016/j.nmd.2012.03.001 10.1212/WNL.0b013e3181d0ccf4 10.1161/01.CIR.65.3.457 10.1016/S0735-1097(03)01065-9 10.1016/S0195-668X(02)00387-1 10.1016/j.ajhg.2008.07.004 10.1212/WNL.40.3_Part_1.553 10.1016/0002-9149(79)90459-4 10.1212/WNL.0b013e31827b1a2f 10.1002/jimd.12195 10.1161/01.CIR.91.4.955 10.1136/openhrt-2020-001510 10.1056/NEJMra1012478 10.15252/embr.201949612 10.1002/ana.24362 10.1002/jimd.12185 10.3109/07853890.2011.605389 10.1093/biomet/80.3.557 10.1056/NEJMra022567 |
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| Copyright | 2022 American College of Cardiology Foundation American College of Cardiology Foundation Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License |
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| Keywords | heart failure sudden death EF mitochondrial diseases MACE single large-scale deletions m3243A>G LV conduction disease HF ejection fraction left ventricle major adverse cardiac event(s) |
| Language | English |
| License | This article is made available under the Elsevier license. Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 |
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| References | Sorajja, Sweeney, Chalmers (bib9) 2003; 89 Hollingsworth, Gorman, Trenell (bib26) 2012; 22 Papadopoulos, Wahbi, Behin (bib23) 2020; 43 Wahbi, Larue, Jardel (bib11) 2010; 74 Hirano, Davidson, DiMauro (bib4) 2001; 16 Anan, Nakagawa, Miyata (bib8) 1995; 91 Limongelli, Tome-Esteban, Dejthevaporn, Rahman, Hanna, Elliott (bib7) 2010; 12 Kusumoto, Schoenfeld, Barrett (bib34) 2019; 74 Roberts, Perloff, Kark (bib10) 1979; 44 Mok, de Moraes, Zeng (bib32) 2020; 583 Lin, Wei, Ying (bib21) 1993; 80 Tveskov, Angelo-Nielsen (bib14) 1990; 40 Quadir, Pontifex, Lee Robertson, Labos, Pfeffer (bib24) 2019; 5 Hinkle, Thaler (bib19) 1982; 65 Koopman, Willems, Smeitink (bib3) 2012; 366 Kalbfleisch, Prentice (bib20) 1980 Nissanka, Moraes (bib31) 2020; 21 Surawicz, Childers, Deal, Gettes (bib16) 2009; 53 Ng, Grady, Lax (bib35) 2016; 37 Malfatti, Laforet, Jardel (bib12) 2013; 80 Wahbi, Bougouin, Behin (bib15) 2015; 36 Chong-Nguyen, Stalens, Goursot (bib29) 2020; 43 DiMauro, Schon (bib1) 2003; 348 Elliott, Samuels, Eden, Relton, Chinnery (bib5) 2008; 83 Imai-Okazaki, Matsunaga, Yatsuka (bib27) 2021; 341 Holmgren, Wahlander, Eriksson, Oldfors, Holme, Tulinius (bib30) 2003; 24 Vydt, de Coo, Soliman (bib25) 2007; 99 Gorman, Schaefer, Ng (bib6) 2015; 77 Arbustini, Diegoli, Fasani (bib13) 1998; 153 Harrell, Lee, Califf, Pryor, Rosati (bib22) 1984; 3 Debray, Lambert, Chevalier (bib28) 2007; 119 Lim, Jones, Bates (bib33) 2021; 8 Pfeffer, Chinnery (bib2) 2013; 45 Hicks, Tcheng, Bozkurt (bib18) 2015; 66 Cheitlin, Armstrong, Aurigemma (bib17) 2003; 42 Sorajja (10.1016/j.jacc.2022.08.716_bib9) 2003; 89 Cheitlin (10.1016/j.jacc.2022.08.716_bib17) 2003; 42 Hicks (10.1016/j.jacc.2022.08.716_bib18) 2015; 66 Hinkle (10.1016/j.jacc.2022.08.716_bib19) 1982; 65 Hollingsworth (10.1016/j.jacc.2022.08.716_bib26) 2012; 22 Lin (10.1016/j.jacc.2022.08.716_bib21) 1993; 80 Vydt (10.1016/j.jacc.2022.08.716_bib25) 2007; 99 Chong-Nguyen (10.1016/j.jacc.2022.08.716_bib29) 2020; 43 Koopman (10.1016/j.jacc.2022.08.716_bib3) 2012; 366 Kalbfleisch (10.1016/j.jacc.2022.08.716_bib20) 1980 Elliott (10.1016/j.jacc.2022.08.716_bib5) 2008; 83 Kusumoto (10.1016/j.jacc.2022.08.716_bib34) 2019; 74 Holmgren (10.1016/j.jacc.2022.08.716_bib30) 2003; 24 Harrell (10.1016/j.jacc.2022.08.716_bib22) 1984; 3 Wahbi (10.1016/j.jacc.2022.08.716_bib11) 2010; 74 Surawicz (10.1016/j.jacc.2022.08.716_bib16) 2009; 53 Mok (10.1016/j.jacc.2022.08.716_bib32) 2020; 583 Quadir (10.1016/j.jacc.2022.08.716_bib24) 2019; 5 Nissanka (10.1016/j.jacc.2022.08.716_bib31) 2020; 21 Papadopoulos (10.1016/j.jacc.2022.08.716_bib23) 2020; 43 Ng (10.1016/j.jacc.2022.08.716_bib35) 2016; 37 Limongelli (10.1016/j.jacc.2022.08.716_bib7) 2010; 12 Imai-Okazaki (10.1016/j.jacc.2022.08.716_bib27) 2021; 341 Debray (10.1016/j.jacc.2022.08.716_bib28) 2007; 119 Lim (10.1016/j.jacc.2022.08.716_bib33) 2021; 8 Gorman (10.1016/j.jacc.2022.08.716_bib6) 2015; 77 Anan (10.1016/j.jacc.2022.08.716_bib8) 1995; 91 Arbustini (10.1016/j.jacc.2022.08.716_bib13) 1998; 153 Wahbi (10.1016/j.jacc.2022.08.716_bib15) 2015; 36 Hirano (10.1016/j.jacc.2022.08.716_bib4) 2001; 16 Malfatti (10.1016/j.jacc.2022.08.716_bib12) 2013; 80 DiMauro (10.1016/j.jacc.2022.08.716_bib1) 2003; 348 Pfeffer (10.1016/j.jacc.2022.08.716_bib2) 2013; 45 Tveskov (10.1016/j.jacc.2022.08.716_bib14) 1990; 40 Roberts (10.1016/j.jacc.2022.08.716_bib10) 1979; 44 36202534 - J Am Coll Cardiol. 2022 Oct 11;80(15):1444-1446. doi: 10.1016/j.jacc.2022.08.719. |
| References_xml | – volume: 74 start-page: 674 year: 2010 end-page: 677 ident: bib11 article-title: Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA publication-title: Neurology – volume: 8 year: 2021 ident: bib33 article-title: Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects publication-title: Open Heart – volume: 16 start-page: 201 year: 2001 end-page: 210 ident: bib4 article-title: Mitochondria and the heart publication-title: Curr Opin Cardiol – volume: 5 start-page: e339 year: 2019 ident: bib24 article-title: Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy publication-title: Neurol Genet – volume: 341 start-page: 48 year: 2021 end-page: 55 ident: bib27 article-title: Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients publication-title: Int J Cardiol – volume: 21 year: 2020 ident: bib31 article-title: Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches publication-title: EMBO Rep – volume: 3 start-page: 143 year: 1984 end-page: 152 ident: bib22 article-title: Regression modelling strategies for improved prognostic prediction publication-title: Stat Med – volume: 91 start-page: 955 year: 1995 end-page: 961 ident: bib8 article-title: Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects publication-title: Circulation – volume: 348 start-page: 2656 year: 2003 end-page: 2668 ident: bib1 article-title: Mitochondrial respiratory-chain diseases publication-title: N Engl J Med – volume: 119 start-page: 722 year: 2007 end-page: 733 ident: bib28 article-title: Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases publication-title: Pediatrics – volume: 37 start-page: 2552 year: 2016 end-page: 2559 ident: bib35 article-title: Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults publication-title: Eur Heart J – volume: 44 start-page: 1396 year: 1979 end-page: 1400 ident: bib10 article-title: Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases publication-title: Am J Cardiol – volume: 24 start-page: 280 year: 2003 end-page: 288 ident: bib30 article-title: Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings publication-title: Eur Heart J – volume: 80 start-page: 557 year: 1993 end-page: 572 ident: bib21 article-title: Checking the Cox model with cumulative sums of martingale-based residuals publication-title: Biometrika – volume: 77 start-page: 753 year: 2015 end-page: 759 ident: bib6 article-title: Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease publication-title: Ann Neurol – volume: 22 start-page: 592 year: 2012 end-page: 596 ident: bib26 article-title: Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load publication-title: Neuromuscul Disord – volume: 36 start-page: 2886 year: 2015 end-page: 2893 ident: bib15 article-title: Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases publication-title: Eur Heart J – volume: 583 start-page: 631 year: 2020 end-page: 637 ident: bib32 article-title: A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing publication-title: Nature – year: 1980 ident: bib20 article-title: The Statistical Analysis of Failure Time Data – volume: 40 start-page: 553 year: 1990 end-page: 554 ident: bib14 article-title: Kearns-Sayre syndrome and dilated cardiomyopathy publication-title: Neurology – volume: 99 start-page: 264 year: 2007 end-page: 269 ident: bib25 article-title: Cardiac involvement in adults with m.3243A>G MELAS gene mutation publication-title: Am J Cardiol – volume: 366 start-page: 1132 year: 2012 end-page: 1141 ident: bib3 article-title: Monogenic mitochondrial disorders publication-title: N Engl J Med – volume: 42 start-page: 954 year: 2003 end-page: 970 ident: bib17 article-title: ACC/AHA/ASE 2003 guideline update for the clinical application of echocardiography: summary article. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASE Committee to Update the 1997 Guidelines for the Clinical Application of Echocardiography) publication-title: J Am Coll Cardiol – volume: 12 start-page: 114 year: 2010 end-page: 121 ident: bib7 article-title: Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease publication-title: Eur J Heart Fail – volume: 80 start-page: 100 year: 2013 end-page: 105 ident: bib12 article-title: High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation publication-title: Neurology – volume: 43 start-page: 459 year: 2020 end-page: 466 ident: bib23 article-title: Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases publication-title: J Inherit Metab Dis – volume: 153 start-page: 1501 year: 1998 end-page: 1510 ident: bib13 article-title: Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy publication-title: Am J Pathol – volume: 43 start-page: 478 year: 2020 end-page: 485 ident: bib29 article-title: A high prevalence of arterial hypertension in patients with mitochondrial diseases publication-title: J Inherit Metab Dis – volume: 74 start-page: e51 year: 2019 end-page: e156 ident: bib34 article-title: 2018 ACC/AHA/HRS guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society publication-title: J Am Coll Cardiol – volume: 45 start-page: 4 year: 2013 end-page: 16 ident: bib2 article-title: Diagnosis and treatment of mitochondrial myopathies publication-title: Ann Med – volume: 66 start-page: 403 year: 2015 end-page: 469 ident: bib18 article-title: 2014 ACC/AHA key data elements and definitions for cardiovascular endpoint events in clinical trials: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Cardiovascular Endpoints Data Standards) publication-title: J Am Coll Cardiol – volume: 83 start-page: 254 year: 2008 end-page: 260 ident: bib5 article-title: Pathogenic mitochondrial DNA mutations are common in the general population publication-title: Am J Hum Genet – volume: 89 start-page: 791 year: 2003 end-page: 792 ident: bib9 article-title: Cardiac abnormalities in patients with Leber's hereditary optic neuropathy publication-title: Heart – volume: 53 start-page: 976 year: 2009 end-page: 981 ident: bib16 article-title: AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the International Society for Computerized Electrocardiology publication-title: J Am Coll Cardiol – volume: 65 start-page: 457 year: 1982 end-page: 464 ident: bib19 article-title: Clinical classification of cardiac deaths publication-title: Circulation – volume: 66 start-page: 403 year: 2015 ident: 10.1016/j.jacc.2022.08.716_bib18 publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2014.12.018 – year: 1980 ident: 10.1016/j.jacc.2022.08.716_bib20 – volume: 99 start-page: 264 year: 2007 ident: 10.1016/j.jacc.2022.08.716_bib25 article-title: Cardiac involvement in adults with m.3243A>G MELAS gene mutation publication-title: Am J Cardiol doi: 10.1016/j.amjcard.2006.07.089 – volume: 53 start-page: 976 year: 2009 ident: 10.1016/j.jacc.2022.08.716_bib16 publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2008.12.013 – volume: 74 start-page: e51 year: 2019 ident: 10.1016/j.jacc.2022.08.716_bib34 publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2018.10.044 – volume: 5 start-page: e339 year: 2019 ident: 10.1016/j.jacc.2022.08.716_bib24 article-title: Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000339 – volume: 37 start-page: 2552 year: 2016 ident: 10.1016/j.jacc.2022.08.716_bib35 article-title: Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults publication-title: Eur Heart J doi: 10.1093/eurheartj/ehv306 – volume: 341 start-page: 48 year: 2021 ident: 10.1016/j.jacc.2022.08.716_bib27 article-title: Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients publication-title: Int J Cardiol doi: 10.1016/j.ijcard.2021.06.042 – volume: 3 start-page: 143 year: 1984 ident: 10.1016/j.jacc.2022.08.716_bib22 article-title: Regression modelling strategies for improved prognostic prediction publication-title: Stat Med doi: 10.1002/sim.4780030207 – volume: 36 start-page: 2886 year: 2015 ident: 10.1016/j.jacc.2022.08.716_bib15 article-title: Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases publication-title: Eur Heart J doi: 10.1093/eurheartj/ehv307 – volume: 16 start-page: 201 year: 2001 ident: 10.1016/j.jacc.2022.08.716_bib4 article-title: Mitochondria and the heart publication-title: Curr Opin Cardiol doi: 10.1097/00001573-200105000-00008 – volume: 153 start-page: 1501 year: 1998 ident: 10.1016/j.jacc.2022.08.716_bib13 article-title: Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy publication-title: Am J Pathol doi: 10.1016/S0002-9440(10)65738-0 – volume: 119 start-page: 722 year: 2007 ident: 10.1016/j.jacc.2022.08.716_bib28 article-title: Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases publication-title: Pediatrics doi: 10.1542/peds.2006-1866 – volume: 583 start-page: 631 year: 2020 ident: 10.1016/j.jacc.2022.08.716_bib32 article-title: A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing publication-title: Nature doi: 10.1038/s41586-020-2477-4 – volume: 12 start-page: 114 year: 2010 ident: 10.1016/j.jacc.2022.08.716_bib7 article-title: Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease publication-title: Eur J Heart Fail doi: 10.1093/eurjhf/hfp186 – volume: 89 start-page: 791 year: 2003 ident: 10.1016/j.jacc.2022.08.716_bib9 article-title: Cardiac abnormalities in patients with Leber's hereditary optic neuropathy publication-title: Heart doi: 10.1136/heart.89.7.791 – volume: 22 start-page: 592 year: 2012 ident: 10.1016/j.jacc.2022.08.716_bib26 article-title: Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2012.03.001 – volume: 74 start-page: 674 year: 2010 ident: 10.1016/j.jacc.2022.08.716_bib11 article-title: Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA publication-title: Neurology doi: 10.1212/WNL.0b013e3181d0ccf4 – volume: 65 start-page: 457 year: 1982 ident: 10.1016/j.jacc.2022.08.716_bib19 article-title: Clinical classification of cardiac deaths publication-title: Circulation doi: 10.1161/01.CIR.65.3.457 – volume: 42 start-page: 954 year: 2003 ident: 10.1016/j.jacc.2022.08.716_bib17 publication-title: J Am Coll Cardiol doi: 10.1016/S0735-1097(03)01065-9 – volume: 24 start-page: 280 year: 2003 ident: 10.1016/j.jacc.2022.08.716_bib30 article-title: Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings publication-title: Eur Heart J doi: 10.1016/S0195-668X(02)00387-1 – volume: 83 start-page: 254 year: 2008 ident: 10.1016/j.jacc.2022.08.716_bib5 article-title: Pathogenic mitochondrial DNA mutations are common in the general population publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2008.07.004 – volume: 40 start-page: 553 year: 1990 ident: 10.1016/j.jacc.2022.08.716_bib14 article-title: Kearns-Sayre syndrome and dilated cardiomyopathy publication-title: Neurology doi: 10.1212/WNL.40.3_Part_1.553 – volume: 44 start-page: 1396 year: 1979 ident: 10.1016/j.jacc.2022.08.716_bib10 article-title: Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases publication-title: Am J Cardiol doi: 10.1016/0002-9149(79)90459-4 – volume: 80 start-page: 100 year: 2013 ident: 10.1016/j.jacc.2022.08.716_bib12 article-title: High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation publication-title: Neurology doi: 10.1212/WNL.0b013e31827b1a2f – volume: 43 start-page: 478 year: 2020 ident: 10.1016/j.jacc.2022.08.716_bib29 article-title: A high prevalence of arterial hypertension in patients with mitochondrial diseases publication-title: J Inherit Metab Dis doi: 10.1002/jimd.12195 – volume: 91 start-page: 955 year: 1995 ident: 10.1016/j.jacc.2022.08.716_bib8 article-title: Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects publication-title: Circulation doi: 10.1161/01.CIR.91.4.955 – volume: 8 year: 2021 ident: 10.1016/j.jacc.2022.08.716_bib33 article-title: Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects publication-title: Open Heart doi: 10.1136/openhrt-2020-001510 – volume: 366 start-page: 1132 year: 2012 ident: 10.1016/j.jacc.2022.08.716_bib3 article-title: Monogenic mitochondrial disorders publication-title: N Engl J Med doi: 10.1056/NEJMra1012478 – volume: 21 year: 2020 ident: 10.1016/j.jacc.2022.08.716_bib31 article-title: Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches publication-title: EMBO Rep doi: 10.15252/embr.201949612 – volume: 77 start-page: 753 year: 2015 ident: 10.1016/j.jacc.2022.08.716_bib6 article-title: Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease publication-title: Ann Neurol doi: 10.1002/ana.24362 – volume: 43 start-page: 459 year: 2020 ident: 10.1016/j.jacc.2022.08.716_bib23 article-title: Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases publication-title: J Inherit Metab Dis doi: 10.1002/jimd.12185 – volume: 45 start-page: 4 year: 2013 ident: 10.1016/j.jacc.2022.08.716_bib2 article-title: Diagnosis and treatment of mitochondrial myopathies publication-title: Ann Med doi: 10.3109/07853890.2011.605389 – volume: 80 start-page: 557 year: 1993 ident: 10.1016/j.jacc.2022.08.716_bib21 article-title: Checking the Cox model with cumulative sums of martingale-based residuals publication-title: Biometrika doi: 10.1093/biomet/80.3.557 – volume: 348 start-page: 2656 year: 2003 ident: 10.1016/j.jacc.2022.08.716_bib1 article-title: Mitochondrial respiratory-chain diseases publication-title: N Engl J Med doi: 10.1056/NEJMra022567 – reference: 36202534 - J Am Coll Cardiol. 2022 Oct 11;80(15):1444-1446. doi: 10.1016/j.jacc.2022.08.719. |
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| Snippet | Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE).
We developed prediction models to... AbstractBackgroundPatients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). ObjectivesWe... Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE).BACKGROUNDPatients with mitochondrial... Background: Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). Objectives: We developed... |
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| Title | Cardiac Outcomes in Adults With Mitochondrial Diseases |
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