Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy.

Autor: Skriver SV; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Krett B; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Poulsen NS; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Krag T; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Walas HR; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Christensen AH; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte Hospital, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Bundgaard H; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Vissing CR; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: christoffer.rasmus.vissing@regionh.dk.

Publikováno v: JACC. Heart failure [JACC Heart Fail] 2024 Apr; Vol. 12 (4), pp. 740-753. Date of Electronic Publication: 2023 Nov 22.

Cardiac Remodeling in Subclinical Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial.

Autor: Vissing CR; Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Axelsson Raja A; Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Day SM; Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia., Russell MW; University of Michigan, Ann Arbor., Zahka K; Cleveland Clinic Foundation, Cleveland, Ohio., Lever HM; Cleveland Clinic Foundation, Cleveland, Ohio., Pereira AC; Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of São Paulo Medical School, São Paulo, Brazil., Colan SD; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts., Margossian R; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts., Murphy AM; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland., Canter C; Washington University School of Medicine, St Louis, Missouri., Bach RG; Washington University School of Medicine, St Louis, Missouri., Wheeler MT; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California., Rossano JW; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Owens AT; Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia., Benson L; Toronto Hospital for Sick Children, Toronto, Ontario, Canada., Mestroni L; University of Colorado Anschutz Medical Campus, Aurora., Taylor MRG; University of Colorado Anschutz Medical Campus, Aurora., Patel AR; Cardiovascular Division, Department of Medicine, University of Virginia Health System, Charlottesville., Wilmot I; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Thrush P; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois., Soslow JH; Vanderbilt University Medical Center, Nashville, Tennessee., Becker JR; Division of Cardiology, University of Pittsburgh School of Medicine and UPMC, Pittsburgh, Pennsylvania., Seidman CE; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland., Lakdawala NK; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Cirino AL; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., McMurray JJV; British Heart Foundation Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom., MacRae CA; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Solomon SD; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Bundgaard H; Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Orav EJ; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Ho CY; Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Publikováno v: JAMA cardiology [JAMA Cardiol] 2023 Nov 01; Vol. 8 (11), pp. 1083-1088.

Transforming Growth Factor-β Analysis of the VANISH Trial Cohort.

Autor: Kim Y; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (Y.K., C.R.V., C.E.S., C.Y.H.)., Mastali M; Advanced Clinical Biosystems Research Institute, The Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA (M.M., J.E.V.E.)., Van Eyk JE; Advanced Clinical Biosystems Research Institute, The Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA (M.M., J.E.V.E.)., Orav EJ; Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, MA (E.J.O.)., Vissing CR; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (Y.K., C.R.V., C.E.S., C.Y.H.).; Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Denmark (C.R.V., A.A.R., H.B.)., Day SM; Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia (S.M.D., A.T.O.)., Axelsson Raja A; Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Denmark (C.R.V., A.A.R., H.B.)., Russell MW; Division of Pediatric Cardiology, Department of Pediatrics, University of Michigan Medical Center, Ann Arbor (M.W.R.)., Zahka K; Department of Pediatric Cardiology, Cleveland Clinic Children's, Pediatric Institute, Cleveland Clinic Foundation, OH (K.Z., H.M.L.)., Lever HM; Department of Pediatric Cardiology, Cleveland Clinic Children's, Pediatric Institute, Cleveland Clinic Foundation, OH (K.Z., H.M.L.)., Pereira AC; Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of Sao Paulo Medical School, Brazil (A.C.P.)., Murphy AM; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD (A.M.M.)., Canter C; Department of Pediatrics (C.C.), Washington University School of Medicine, St. Louis, MO., Bach RG; Department of Medicine (R.G.B.), Washington University School of Medicine, St. Louis, MO., Wheeler MT; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, CA (M.T.W.)., Rossano JW; Division of Cardiology, Children's Hospital of Philadelphia, PA (J.W.R.)., Owens AT; Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia (S.M.D., A.T.O.)., Bundgaard H; Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Denmark (C.R.V., A.A.R., H.B.).; Department of Clinical Medicine, University of Copenhagen, Denmark (H.B.)., Benson L; The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, ON, Canada (L.B.)., Mestroni L; Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora (L.M., M.R.G.T.)., Taylor MRG; Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora (L.M., M.R.G.T.)., Patel AR; Division of Cardiology, University of Virginia, Charlottesville (A.R.P.)., Wilmot I; Heart Institute, Cincinnati Children's Hospital Medical Center, OH (I.W.)., Thrush P; Division of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, IL (P.T.)., Soslow JH; Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN (J.H.S.)., Becker JR; Division of Cardiology, University of Pittsburgh School of Medicine, PA (J.R.B.)., Seidman CE; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (Y.K., C.R.V., C.E.S., C.Y.H.).; Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.)., Ho CY; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (Y.K., C.R.V., C.E.S., C.Y.H.).

Publikováno v: Circulation. Heart failure [Circ Heart Fail] 2023 Apr; Vol. 16 (4), pp. e010314. Date of Electronic Publication: 2023 Mar 31.

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.

Autor: Ghouse J; Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. jonas.ghouse@sund.ku.dk.; Laboratory for Molecular Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark. jonas.ghouse@sund.ku.dk., Tragante V; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Ahlberg G; Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Rand SA; Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Jespersen JB; Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Leinøe EB; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Vissing CR; Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Trudsø L; Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Jonsdottir I; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Iceland Department of Immunology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland., Banasik K; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Brunak S; Translational Disease Systems Biology, Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Ostrowski SR; Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Pedersen OB; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Næstved Hospital, Næstved, Denmark., Sørensen E; Department of Clinical Immunology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark., Bruun MT; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark., Nielsen KR; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark., Køber L; Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Christensen AH; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte Hospital, Herlev, Denmark., Iversen K; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte Hospital, Herlev, Denmark., Jones D; Precision Genomics, Intermountain Healthcare, Saint George, UT, USA., Knowlton KU; Intermountain Medical Center, Intermountain Heart Institute, Salt Lake City, UT, USA.; University of Utah, School of Medicine, Salt Lake City, UT, USA., Nadauld L; Precision Genomics, Intermountain Healthcare, Saint George, UT, USA.; Stanford University, School of Medicine, Stanford, CA, USA., Halldorsson GH; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Ferkingstad E; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Olafsson I; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Gretarsdottir S; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Onundarson PT; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Laboratory Hematology, Landspitali, The National University Hospital of Iceland, Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Thorsteinsdottir U; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Thorgeirsson G; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Department of Medicine, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland., Gudbjartsson DF; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Holm H; deCODE genetics/Amgen, Inc., Reykjavik, Iceland., Olesen MS; Laboratory for Molecular Cardiology, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Laboratory for Molecular Cardiology, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark., Bundgaard H; Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Nature genetics [Nat Genet] 2023 Mar; Vol. 55 (3), pp. 399-409. Date of Electronic Publication: 2023 Jan 19.

Cardiac Outcomes in Adults With Mitochondrial Diseases.

Autor: Savvatis K; Inherited Cardiac Conditions Unit, Barts Heart Centre, St Bartholomew's Hospital, London, United Kingdom; William Harvey Research Institute, Queen Mary University London, London, United Kingdom; Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, United Kingdom., Vissing CR; Copenhagen Neuromuscular Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; The Capital Region's Unit for Inherited Cardiac Diseases, Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Klouvi L; AFM Telethon, Evry, France., Florian A; Department of Cardiology I, Division of Cardiovascular Imaging, University Hospital Münster, Münster, Germany., Rahman M; Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, United Kingdom., Béhin A; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France., Fayssoil A; AP-HP, Raymond Poincare University Hospital, Garches, France; Université de Versailles-Saint Quentin, Boulogne-Billancourt, France., Masingue M; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France., Stojkovic T; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France., Bécane HM; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France., Berber N; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France., Mochel F; AP-HP, Pitié-Salpêtrière Hospital, Genetics Department, Inserm UMR S975, CNRS UMR7225, ICM, Paris, France; Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France., Duboc D; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; AP-HP, Cochin Hospital, Cardiology Department, Paris Cedex, France; Université de Paris, Paris, France., Fontaine B; 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., Krett B; Copenhagen Neuromuscular Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Stalens C; AFM Telethon, Evry, France., Lejeune J; AFM Telethon, Evry, France., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Lopes L; Inherited Cardiac Conditions Unit, Barts Heart Centre, St Bartholomew's Hospital, London, United Kingdom; Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, United Kingdom., Saadi M; AP-HP, Cochin Hospital, Cardiology Department, Paris Cedex, France., Gossios T; Cardiomyopathies Laboratory, 1st Aristotle University of Thessaloniki Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece., Procaccio V; Equipe Mitolab, Unité Mixte de Recherche MITOVASC, CNRS 6015, INSERM U1083, Université d'Angers, Angers, France; Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France., Spinazzi M; Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France; Neuromuscular Reference Center, Department of Neurology, CHU Angers, Angers, France., Tard C; Université de Lille, INSERMU1172, Lille, France; Centre de Référence des Maladies Neuromusculaires Nord Est Ile de France, CHU de Lille, Lille, France., De Groote P; Service de Cardiologie, Pôle Cardio-vasculaire et Pulmonaire, CHRU de Lille, Lille, France; Inserm U1167, Institut Pasteur de Lille, Université de Lille 2, Lille, France., Dhaenens CM; Université de Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience and Cognition, Lille, France., Douillard C; CHU de Lille, Département d'Endocrinologie et Métabolisme, Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Huriez, Lille, France., Echaniz-Laguna A; Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France; French National Reference Center for Rare Neuropathies (NNERF), Le Kremlin-Bicêtre, France; INSERM U1195, Paris-Saclay University, Le Kremlin-Bicêtre, France., Quinlivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, United Kingdom., Yilmaz A; Department of Cardiology I, Division of Cardiovascular Imaging, University Hospital Münster, Münster, Germany., Vissing J; Copenhagen Neuromuscular Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Laforêt P; Inserm U1167, Institut Pasteur de Lille, Université de Lille 2, Lille, France; Nord/Est/Île-de-France Neuromuscular Reference Center, Neurology Department, Raymond-Poincaré Teaching Hospital, AP-HP, Garches, France; INSERM U1179, END-ICAP, Versailles-Saint-Quentin-en-Yvelines University, Université Paris Saclay, Montigny-le-Bretonneux, France., Elliott P; Inherited Cardiac Conditions Unit, Barts Heart Centre, St Bartholomew's Hospital, London, United Kingdom; Centre for Heart Muscle Disease, Institute for Cardiovascular Science, University College London, London, United Kingdom., Wahbi K; AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; AP-HP, Cochin Hospital, Cardiology Department, Paris Cedex, France; Université de Paris, Paris, France; Paris Cardiovascular Research Center (PARCC), INSERM Unit 970, Paris, France. Electronic address: karim.wahbi@cch.aphp.fr.

Publikováno v: Journal of the American College of Cardiology [J Am Coll Cardiol] 2022 Oct 11; Vol. 80 (15), pp. 1421-1430.