Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

PAH-ICON members: Micheala A. Aldred (Indiana University School of Medicine, Indianapolis, IN, USA), Stephen L. Archer (Department of Medicine, Queen's University, Kingston, ON, Canada), Eric D. Austin (Department of Pediatrics, Division of Allergy, Immunology and Pulmonary Medicine, Vanderbilt University, Nashville, TN, USA), Roberto Badagliacca (Pulmonary Hypertension Unit, Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Rome, Italy), Srimmitha Balanchandar (School of Medicine, Indiana University, Indianapolis, IN, USA), Joan-Albert Barberà (Department of Pulmonary Medicine, Hospital Clinic-IDIBAPS, University of Barcelona, Spain; Biomedical Research Networking Center on Respiratory Diseases (CIBERES), Spain), Raymond L. Benza (The Cardiovascular Institute, Allegheny General Hospital, Pittsburgh, PA, USA), Rolf M. F. Berger (Pediatric and Congenital Cardiology, Center for Congenital Heart Diseases, Beatrix Children's Hospital, University Medical Center Groningen, The Netherlands), Harm Jan Bogaard (Department of Lung Disease, Amsterdam UMC (location VUmc), Amsterdam, The Netherlands), Sébastien Bonnet (Pulmonary Hypertension Research Group, Centre de Recherche de l'Institut de Cardiologie et de Pneumologie de Quebec, Quebec City, QC, Canada; Department of Medicine, Université Laval, Quebec City, QC, Canada), Karin A. Boomars (Department of Pulmonary Medicine, Erasmus MC, University Medical Center Rotterdam, The Netherlands), Olivier Boucherat (Department of Medicine, Université Laval, Quebec City, QC, Canada; Pulmonary Hypertension and Vascular Biology Research Group, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Department of Medicine, Université Laval, Quebec City, QC, Canada), Murali M. Chakinala (Division of Pulmonary and Critical Care Medicine, Department of Medicine, Washington University School of Medicine, St Louis, MO, USA), Robin Condliffe (Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, UK; Royal Hallamshire Hospital, Sheffield, UK), Rachel Lynn Damico (Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA), Marion Delcroix (Department of Pneumology, University Hospital Leuven, Leuven, Belgium), Ankit A. Desai (Indiana University, Indianapolis, IN, USA), Anna Doboszynska (Department of Pulmonology, Faculty of Medicine, University of Warmia and Mazury in Olsztyn, Olsztyn, Poland), Dennis Dooijes (Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands), C. Greg Elliott (Pulmonary Division, Intermountain Medical Center, Murray, UT, USA), Melanie Eyries (Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France; INSERM UMRS 1166, Sorbonne Université and Institute for Cardiometabolism and Nutrition (ICAN), Paris, France), Maria Pilar Escribano Subías (Department of Cardiology, Hospital Universitario 12 de Octubre, Madrid, Spain; Ciber-CV, Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain; Centro de Referencia Nacional de Hipertensión Pulmonar Compleja and ERN-Lung-Pulmonary Hypertension Referal Center, Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Universitario 12 de Octubre (Imas12), Red SAMID, Madrid, Spain), Henning Gall (Justus-Liebig University, Excellence Cluster Cardio-Pulmonary Institute (CPI) and Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany), Beatriz García-Aranda (Department of Cardiology, Hospital Universitario 12 de Octubre, Madrid, Spain), Stefano Ghio (Division of Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy), Hossein Ardeschir Ghofrani (Justus-Liebig University, Excellence Cluster Cardio-Pulmonary Institute (CPI) and Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany; Department of Medicine, Imperial College London, London, UK), Rizwan Hamid (Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA), Paul M. Hassoun (Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA), Anna R. Hemnes (Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA), Katrin Hinderhofer (Laboratory of Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany), Arjan C. Houweling (Department of Clinical Genetics, Amsterdam UMC (location VUmc), Amsterdam, The Netherlands), Luke S. Howard (National Heart and Lung Institute, Imperial College London, London, UK), Marc Humbert (Faculté de Médecine, Université Paris-Sud and Université Paris-Saclay, Le Kremlin-Bicêtre, France; INSERM UMR_S 999, Le Plessis-Robinson, France; AP-HP, Service de Pneumologie, Centre de Référence de l'Hypertension Pulmonaire Sévère, Département Hospitalo-Universitaire (DHU) Thorax Innovation (TORINO), Hôpital de Bicêtre, Le Kremlin-Bicêtre, France), David G. Kiely (Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, UK), Gabor Kovacs (Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria; Medical University of Graz, Graz, Austria), David Langleben (Center for Pulmonary Vascular Disease, Cardiology Division, Jewish General Hospital and McGill University, Montreal, QC, Canada), Pablo Lapunzina (Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Madrid, Spain; CIBER Enfermedades Respiratorias, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Hospital Universitario La Paz, Madrid, Spain), Allan Lawrie (National Heart and Lung Institute, Imperial College London, London, UK), Jim E. Loyd (Vanderbilt University Medical Center, Nashville, TN, USA), Rajiv D. Machado (Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK), Giovanna Manzi (Department of Clinical, Anesthesiological and Cardiovascular Sciences, I School of Medicine, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy), Jennifer M. Martin (Department of Medicine, University of Cambridge, Cambridge, UK), Evangelos D. Michelakis (Department of Medicine, Alberta Cardiovascular and Stroke Research Centre, University of Alberta, Edmonton, AB, Canada), Shahin Moledina (Great Ormond Street Hospital, London, UK), John H. Newman (Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA), William C. Nichols (Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA), Nuria Ochoa Parra (Pulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario Doce de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Instituto de Salud Carlos III (CIBERCV), Madrid, Spain), Andrea Olschewski (Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria), Horst Olschewski (Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria; Medical University of Graz, Graz, Austria), Dviya Pandya (Department of Medicine, University of Cambridge, Cambridge, UK), Silvia Papa (Pulmonary Hypertension Unit, Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Italy), Mike W. Pauciulo (Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA), Roxane Paulin (Pulmonary Hypertension Research Group, Centre de Recherche de l'Institut de Cardiologie et de Pneumologie de Quebec, Quebec City, QC, Canada), Roberto Poscia (Pulmonary Hypertension Unit, Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Rome, Italy), Martina Prapa (Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; Royal Papworth Hospital NHS Foundation Trust, Cambridge, UK), Steeve Provencher (Department of Medicine, Université Laval, Quebec City, QC, Canada; Pulmonary Hypertension and Vascular Biology Research Group, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Department of Medicine, Université Laval, Quebec City, QC, Canada), Marlene Rabinovitch (Cardiovascular Institute, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Stanford University School of Medicine/VA Palo Alto, Palo Alto, CA, USA; The Vera Moulton Wall Center for Pulmonary Vascular Disease, Stanford, CA, USA), Laura Scelsi (Division of Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy), Werner Seeger (Justus-Liebig University, Excellence Cluster Cardio-Pulmonary Institute (CPI) and Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany), Memoona Shaukat (Laboratory of Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany; Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Heidelberg, Germany and Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany), Natascha Sommer (Justus-Liebig University, Excellence Cluster Cardio-Pulmonary Institute (CPI) and Universities of Giessen and Marburg Lung Center (UGMLC), Member of the German Center for Lung Research (DZL), Giessen, Germany), Laura Southgate (Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK; Department of Medical and Molecular Genetics, King's College London, London, UK), Duncan J. Stewart (Ottawa Hospital Research Institute, Sinclair Centre for Regenerative Medicine and the University of Ottawa, ON, Canada), Andrew Sweatt (Department of Pulmonary, Allergy and Critical Care Medicine, Stanford University, Stanford, CA, USA), Emilia M. Swietlik (Department of Medicine, University of Cambridge, UK), Hemant K. Tiwari (Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA), Roberto Torre (Pulmonary Hypertension Unit, Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Rome, Italy), Carmen Treacy (Department of Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK), Olga Tura-Ceide (Department of Pulmonary Medicine, Hospital Clínic-IDIBAPS, University of Barcelona, Spain; Biomedical Research Networking center on Respiratory diseases (CIBERES), Madrid, Spain; Department of Pulmonary Medicine, Dr Josep Trueta University Hospital de Girona, Santa Caterina Hospital de Salt and the Girona Biomedical Research Institute (IDIBGI), Girona, Spain), Carmine Dario Vizza (Pulmonary Hypertension Unit, Department of Cardiovascular and Respiratory Sciences, Sapienza University of Rome, Italy), Anton Vonk Noordegraaf (Department of Pulmonology, Amsterdam Cardiovascular Sciences, Amsterdam UMC (location VUmc), Amsterdam, The Netherlands), Carrie Welch (Department of Pediatrics, Columbia University Medical Center, New York, NY, USA), Martin R. Wilkins (National Heart and Lung Institute, Imperial College London, London, UK), Roham T. Zamanian (Department of Medicine, Stanford University Medical Center, Stanford, CA, USA) and Dmitry Zateyshchikov (Federal Scientific Clinical Centre of Federal Medical and Biological Agency, Genetic Laboratory, Moscow, Russia).

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