Buccal mucosa cells as a diagnostic tool in patients with arrhythmogenic cardiomyopathy

Autor: SM Van Der Voorn, F Mirzad, M A Vos, H. E. Driessen, Fhm Van Lint, Mimount Bourfiss, Tab Van Veen, L El Onsri

Publikováno v: EP Europace. 23

Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Netherlands Cardio Vascular Research Initiative (CVON): the Dutch heart foundation Background Arrhythmogenic cardiomyopathy (ACM) is predominantly caused by mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::70e9af4b1691ab153aacd0cae8e099cb
https://doi.org/10.1093/europace/euab116.035

Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy.

Autor: van Lint FHM; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands., Hassanzada F; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Verstraelen TE; Heart Centre, Department of Cardiology, Amsterdam University Medical Centre, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam, The Netherlands., Wang W; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Bosman LP; Netherlands Heart Institute, Utrecht, The Netherlands.; Department of Cardiology, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van der Zwaag PA; University Medical Centre Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands., Oomen T; Department of Cardiology, St. Antonius Hospital, Sneek, The Netherlands., Calkins H; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Murray B; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Tichnell C; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Beuren TMA; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands., Asselbergs FW; Department of Cardiology, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Houweling A; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., van den Berg MP; Department of Cardiology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Wilde AAM; Heart Centre, Department of Cardiology, Amsterdam University Medical Centre, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam, The Netherlands., James CA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., van Tintelen JP; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands. j.p.vantintelen-3@umcutrecht.nl.; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. j.p.vantintelen-3@umcutrecht.nl.; Netherlands Heart Institute, Utrecht, The Netherlands. j.p.vantintelen-3@umcutrecht.nl.

Publikováno v: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation [Neth Heart J] 2023 Aug; Vol. 31 (7-8), pp. 291-299. Date of Electronic Publication: 2023 Jul 20.

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant.

Autor: Hoorntje ET; Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).; Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.)., Burns C; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).; Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.)., Marsili L; Department of Clinical Genetics, Amsterdam University Medical Centre, location AMC, University of Amsterdam, the Netherlands (L.M., J.P.v.T.).; Clinique de Génétique, CHU Lille, Lille, France (L.M.)., Corden B; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.)., Parikh VN; Stanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.)., Te Meerman GJ; Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.)., Gray B; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).; Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.)., Adiyaman A; Department of Cardiology, Isala Heart Center, Zwolle (A.A.)., Bagnall RD; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).; Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.)., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre (D.Q.C.M.B.-S., A.M.v.M.)., van den Berg MP; Department of Cardiology, University of Groningen, University Medical Centre Groningen (M.P.v.d.B., G.v.W.)., Bootsma M; Department of Cardiology, University of Leiden, Leiden University Medical Centre (M.B.)., Bosman LP; Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).; Department of Cardiology, University of Utrecht (L.P.B.)., Correnti G; Adult Genetics Unit, Royal Adelaide Hospital and Faculty of Health and Medical Sciences, University of Adelaide (G.C.)., Duflou J; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.)., Eppinga RN, Fatkin D; Victor Chang Cardiac Research Institute, Sydney (D.F.)., Fietz M; Department of Diagnostic Genomics, PathWest Laboratory, Medicine WA, Redlands, Australia (M.F.)., Haan E, Jongbloed JDH; Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.)., Hauer AD; Department of Cardiology, Haga Teaching Hospital, the Hague (A.D.H.)., Lam L; Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.)., van Lint FHM; Department of Genetics, University of Utrecht, University Medical Centre Utrecht, the Netherlands (F.H.M.v.L., J.P.v.T.)., Lota A; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.)., Marcelis C; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands (C.M.)., McCarthy HJ; Department of Clinical Genetics, Children's Hospital Westmead, Sydney, Australia (H.J.M.)., van Mil AM; Department of Clinical Genetics, Leiden University Medical Centre (D.Q.C.M.B.-S., A.M.v.M.)., Oldenburg RA; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands (R.A.O.)., Pachter N; Genetic Services of Western Australia, Perth, Australia (N.P.)., Planken RN; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centre, Amsterdam, the Netherlands (R.N.P.)., Reuter C; Stanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.)., Semsarian C; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).; Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.)., van der Smagt JJ, Thompson T; Department of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.)., Vohra J; Department of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).; Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Australia (J.V., D.Z.)., Volders PGA; Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM) (P.G.A.V.)., van Waning JI, Whiffin N; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.)., van den Wijngaard A; Department of Clinical Genetics, Laboratory Clinical Genetics, Maastricht University Medical Centre (A.v.d.W.)., Amin AS; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., A.A.M.W.)., Wilde AAM; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., A.A.M.W.)., van Woerden G; Department of Cardiology, University of Groningen, University Medical Centre Groningen (M.P.v.d.B., G.v.W.)., Yeates L; Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.).; Cardio Genomics Program at Centenary Institute, The University of Sydney (L.Y., J.I.)., Zentner D; Department of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).; Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Australia (J.V., D.Z.)., Ashley EA; Stanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.)., Wheeler MT; Stanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.)., Ware JS; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.)., van Tintelen JP; Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).; Department of Clinical Genetics, Amsterdam University Medical Centre, location AMC, University of Amsterdam, the Netherlands (L.M., J.P.v.T.).; Department of Genetics, University of Utrecht, University Medical Centre Utrecht, the Netherlands (F.H.M.v.L., J.P.v.T.)., Ingles J; Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.).; Cardio Genomics Program at Centenary Institute, The University of Sydney (L.Y., J.I.).; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney (J.I.).; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia (J.I.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Feb; Vol. 16 (1), pp. e003672. Date of Electronic Publication: 2022 Dec 29.

Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy.

Autor: Driessen HE; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., van der Voorn SM; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Bourfiss M; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands., van Lint FHM; Department of Genetics, Division Heart & Lungs, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Mirzad F; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Onsri LE; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Vos MA; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., van Veen TAB; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2021 Dec 21; Vol. 23 (1). Date of Electronic Publication: 2021 Dec 21.

Strength of patient cohorts and biobanks for cardiomyopathy research.

Autor: de Boer RA; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Nijenkamp LLAM; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Silljé HHW; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Eijgenraam TR; Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Parbhudayal R; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., van Driel B; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Huurman R; Department of Cardiology, University Medical Center Rotterdam, Erasmus MC, Rotterdam, The Netherlands., Michels M; Department of Cardiology, University Medical Center Rotterdam, Erasmus MC, Rotterdam, The Netherlands., Pei J; Department of Cardiology, Division Heart & Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Harakalova M; Department of Cardiology, Division Heart & Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van Lint FHM; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Jansen M; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Baas AF; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Asselbergs FW; Department of Cardiology, Division Heart & Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van Tintelen JP; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Brundel BJJM; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Dorsch LM; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Schuldt M; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Kuster DWD; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., van der Velden J; Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands. j.vandervelden1@amsterdamumc.nl.

Publikováno v: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation [Neth Heart J] 2020 Aug; Vol. 28 (Suppl 1), pp. 50-56.