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51. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension Developed by the task force for the diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS). Endorsed by the International Society for Heart and Lung Transplantation (ISHLT) and the European Reference Network on rare respiratory diseases (ERN-LUNG)

Author

Humbert, Marc, Kovacs, Gabor, Hoeper, Marius M., Badagliacca, Roberto, Berger, Rolf M. F., Brida, Margarita, Carlsen, Jorn, Coats, Andrew J. S., Escribano-Subias, Pilar, Ferrari, Pisana, Ferreira, Diogenes S., Ghofrani, Hossein Ardeschir, Giannakoulas, George, Kiely, David G., Mayer, Eckhard, Meszaros, Gergely, Nagavci, Blin, Olsson, Karen M., Pepke-Zaba, Joanna, Quint, Jennifer K., Radegran, Goran, Simonneau, Gerald, Sitbon, Olivier, Tonia, Thomy, Toshner, Mark, Vachiery, Jean-Luc, Noordegraaf, Anton Vonk, Delcroix, Marion, Rosenkranz, Stephan, Schwerzmann, Markus, Anh-Tuan Dinh-Xuan, Bush, Andy, Abdelhamid, Magdy, Aboyans, Victor, Arbustini, Eloisa, Asteggiano, Riccardo, Barbera, Joan-Albert, Beghetti, Maurice, Cikes, Maja, Condliffe, Robin, de Man, Frances, Falk, Volkmar, Fauchier, Laurent, Gaine, Sean, Galie, Nazzareno, Gin-Sing, Wendy, Granton, John, Grunig, Ekkehard, Hassoun, Paul M., Hellemons, Merel, and Cardiovascular Centre (CVC)

Subjects
ENDOTHELIN-RECEPTOR ANTAGONIST, Guidelines, Pulmonary arterial hypertension, Pulmonary hypertension, Chronic thrombo-embolic pulmonary hypertension, LONG-TERM OUTCOMES, QUALITY-OF-LIFE, Balloon pulmonary angioplasty, Soluble guanylate cyclase stimulators, Connective tissue disease, CALCIUM-CHANNEL BLOCKERS, Congenital heart disease, RIGHT-VENTRICULAR DYSFUNCTION, IMPROVES EXERCISE CAPACITY, Endothelin receptor antagonists, Lung transplantation, PRESERVED EJECTION FRACTION, EOSINOPHILIA-MYALGIA-SYNDROME, Pulmonary endarterectomy, Left heart disease, Lung disease, Prostacyclin receptor agonists, Prostacyclin analogues, AFFAIRS CLINICAL-ASSESSMENT, Phosphodiesterase type 5 inhibitors, CONTINUOUS INTRAVENOUS EPOPROSTENOL
Published
2022

52. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension:Developed by the task force for the diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS). Endorsed by the International Society for Heart and Lung Transplantation (ISHLT) and the European Reference Network on rare respiratory diseases (ERN-LUNG)

Author

Humbert, Marc, Kovacs, Gabor, Hoeper, Marius M, Badagliacca, Roberto, Berger, Rolf M F, Brida, Margarita, Carlsen, Jørn, Coats, Andrew J S, Escribano-Subias, Pilar, Ferrari, Pisana, Ferreira, Diogenes S, Ghofrani, Hossein Ardeschir, Giannakoulas, George, Kiely, David G, Mayer, Eckhard, Meszaros, Gergely, Nagavci, Blin, Olsson, Karen M, Pepke-Zaba, Joanna, Quint, Jennifer K, Rådegran, Göran, Simonneau, Gerald, Sitbon, Olivier, Tonia, Thomy, Toshner, Mark, Vachiery, Jean Luc, Vonk Noordegraaf, Anton, Delcroix, Marion, Rosenkranz, Stephan, and Nielsen, Jens Cosedis

Subjects
Endothelin Receptor Antagonists, Hypertension, Pulmonary/diagnosis, Humans
Published
2022

53. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Author

Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, and ARD - Amsterdam Reproduction and Development

Subjects
VARIANT, LOCI, INTEGRATIVE ANALYSIS, General Physics and Astronomy, Cholestasis, Intrahepatic, TRIGLYCERIDE LEVELS, DISEASE, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, Pregnancy, Humans, MUTATION, Science & Technology, Multidisciplinary, Genomics England Research Consortium Collaborators, Infant, Newborn, NIHR BioResource, General Chemistry, GLUCOCORTICOID-RECEPTOR, Multidisciplinary Sciences, ALKALINE SPHINGOMYELINASE, Pregnancy Complications, INSIGHTS, Science & Technology - Other Topics, Premature Birth, Female, FASTING GLUCOSE, Genome-Wide Association Study
Abstract

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility. ispartof: NATURE COMMUNICATIONS vol:13 issue:1 ispartof: location:England status: published

Published
2022

54. ORAL TREPROSTINIL TREATMENT IS ASSOCIATED WITH IMPROVED SURVIVAL IN PULMONARY ARTERIAL HYPERTENSION PARTICIPANTS IN FREEDOM-EV AND THE FREEDOM-EV OPEN-LABEL EXTENSION STUDY

Author

WHITE, R. JAMES, primary, PEPKE-ZABA, JOANNA, additional, P BALASUBRAMANIAN, VIJAY, additional, M. ELWING, JEAN, additional, MC VONK, MADELON, additional, H. ROSENKRANZ, STEPHAN, additional, CADARET, LINDA M, additional, SAHAY, SANDEEP, additional, YU, ZAIXIN, additional, HOLDSTOCK, LOUIS, additional, DENG, C.Q., additional, SEAMAN, SCOTT, additional, BRODERICK, MEREDITH, additional, and DV VIZZA, CARMINE, additional

Published
2022
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55. Acute lung injury after balloon pulmonary angioplasty results in a similar haemodynamic response and possible clinical advantage at follow‐up

Author

Rodgers, Matthew S., primary, Kirkby, Louise C., additional, Amaral‐Almeida, Liliana, additional, Sheares, Karen, additional, Toshner, Mark, additional, Taboada, Dolores, additional, Ng, Choo, additional, Cannon, John E., additional, D'Errico, Luigia, additional, Ruggiero, Alessandro, additional, Screaton, Nicholas, additional, Jenkins, David, additional, Coghlan, John G., additional, Pepke‐Zaba, Joanna, additional, and Hoole, Stephen P., additional

Published
2022
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59. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Author

Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D., Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G., Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R., Wort, Stephen J., Wharton, John, Gräf, Stefan, Morrell, Nicholas W., Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W, Laffan, Michael A, Maher, Eamonn, Markus, Hugh S, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Roberts, Irene, Smith, Kenneth, Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem H, Penkett, Christopher J, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Ashford, Sofie, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K, Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Peter, Erber, Wendy N, Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Hart, Daniel, Heemskerk, Johan WM, Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M, Laffan, Michael A, Lambert, Michele P, Lentaigne, Claire, Liesner, Ri, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M, Mumford, Andrew, Nurden, Paquita, Ouwehand, Willem H, Papadia, Sofia, Payne, Jeanette, Pasi, John, Perry, David J, Peerlinck, Kathelijne, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Tait, R Campbell, Talks, Kate, Thachil, Jecko, Turro, Ernest, Toh, Cheng-Hock, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Stirrups, Kathleen, Whitehorn, Deborah, Watt, Christopher, Attwood, Antony, Daugherty, Louise, Deevi, Sri VV, Halmagyi, Csaba, Hu, Fengyuan, James, Roger, Matser, Vera, Meacham, Stuart, Megy, Karyn, Penkett, Christopher J, Stirrups, Kathleen, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Carss, Keren, Greene, Daniel, Lango-Allen, Hana, Turro, Ernest, Astle, William, Greene, Daniel, Richardson, Sylvia, Turro, Ernest, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Bryson, Christine, Anderson, Julie, Fletcher, Debra, McJannet, Coleen, Stock, Sophie, Young, Tim, Wassmer, Evangeline, Sohal, Aman, Santra, Saikat, Vogt, Julie, Chitre, Manali, Krishnakumar, Deepa, Ambegaonkar, Gautum, Maw, Anna, Armstrong, Ruth, Park, Soo-Mi, Mehta, Sarju, Paterson, Joan, Carmichael, Jenny, Allen, Louise, Hensiek, Anke, Firth, Helen, Stein, Penelope, Deegan, Patrick, Doffinger, Rainer, Parker, Alasdair, Bitner-Glindzicz, Maria, Scott, Richard, Hurst, Jane, Rosser, Elisabeth, Lees, Melissa, Clement, Emma, Henderson, Robert, Thompson, Dorothy, Gardham, Alice, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Canham, Natalie, Wakeling, Emma, Holder, Susan, Ghali, Neeti, Brady, Angie, Clowes, Virginia, MacLaren, Robert, Webster, Andrew, Moore, Anthony, Arno, Gavin, Michaelides, Michel, Rankin, Julia, Kurian, Manju, Murphy, Elaine, Carss, Keren, Sanchis-Juan, Alba, Erwood, Marie, Dewhurst, Eleanor, Grozeva, Detelina, Raymond, F Lucy, Reid, Evan, Woods, Geoff, Tischkowitz, Marc, Sandford, Richard, Ali, Sonia, Creaser-Myers, Amanda, Cookson, Victoria, DaCosta, Rosa, Dormand, Natalie, Ghataorhe, Pavandeep K, Greenhalgh, Alan, Huis in’t Veld, Anna, Kennedy, Fiona, Mackenzie Ross, Rob, Masati, Larahmie, Meehan, Sharon, Othman, Shokri, Pollock, Val, Polwarth, Gary, Rhodes, Christopher J, Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Tan, Yvonne, Wanjiku, Ivy, Wort, John, Smith, Kenneth, Kuijpers, Taco, Thrasher, Adrian, Thaventhiran, James, Brown, Matthew, Lango Allen, Hana, Simeoni, Ilenia, Staples, Emily, Samarghitean, Crina, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Stauss, Hans, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, and Yong, Patrick

Published
2017
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60. Abstract 14753: Loss of Function ABCC8 Mutations Are Associated With Pulmonary Arterial Hypertension

Author

Bohnen, Michael S, Ma, Lijiang, Zhu, Na, Qi, Hongjian, McClenaghan, Conor, Gonzaga-Jauregui, Claudia, Dewey, Frederick E, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan R, Baras, Aris, Sampson, Kevin J, Bleda, Marta, Hadinnapola, Charaka, Haimel, Matthias, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Corris, Paul A, Eyries, Mélanie, Gibbs, J. Simon R, Girerd, Barbara, Houweling, Arjan C, Humbert, Marc, Kiely, David G, Lawrie, Allan, MacKenzie Ross, Rob V, Martin, Jennifer M, Montani, David, Peacock, Andrew J, Pepke-Zaba, Joanna, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark, Treacy, Carmen M, Trembath, Richard C, Vonk Noordegraaf, Anton, Wharton, John, Wilkins, Martin R, Wort, Stephen J, Yates, Katherine, Gräf, Stefan, Morrell, Nicholas W, Krishnan, Usha, Rosenzweig, Erika B, Shen, Yufeng, Nichols, Colin G, Kass, Robert S, and Chung, Wendy K

Published
2017

61. The CRASH report: emergency management dilemmas facing acute physicians in patients with pulmonary arterial hypertension

Author

Price, Laura C, Dimopoulos, Konstantinos, Marino, Philip, Alonso-Gonzalez, Rafael, McCabe, Colm, Kemnpy, Aleksander, Swan, Lorna, Boutsikou, Maria, Al Zahrani, Ahmed, Coghlan, Gerry J, Schreiber, Benjamin E, Howard, Luke S, Davies, Rachel, Toshner, Mark, Pepke-Zaba, Joanna, Church, Alistair C, Peacock, Andrew, Corris, Paul A, Lordan, James L, Gaine, Sean, Condliffe, Robin, Kiely, David G, and Wort, Stephen John

Published
2017
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64. Pulmonary Vascular Research Institute GoDeep: A meta‐registry merging deep phenotyping datafrom international PH reference centers

Author

Majeed, Raphael W., primary, Wilkins, Martin R., additional, Howard, Luke, additional, Hassoun, Paul M., additional, Anthi, Anastasia, additional, Cajigas, Hector R., additional, Cannon, John, additional, Chan, Stephen Y., additional, Damonte, Victoria, additional, Elwing, Jean, additional, Förster, Kai, additional, Frantz, Robert, additional, Ghio, Stefano, additional, Al Ghouleh, Imad, additional, Hilgendorff, Anne, additional, Jose, Arun, additional, Juaneda, Ernesto, additional, Kiely, David G., additional, Lawrie, Allan, additional, Orfanos, Stylianos E., additional, Pepe, Antonella, additional, Pepke‐Zaba, Joanna, additional, Sirenko, Yuriy, additional, Swett, Andrew J., additional, Torbas, Olena, additional, Zamanian, Roham T., additional, Marquardt, Kurt, additional, Michel‐Backofen, Achim, additional, Antoine, Tobiah, additional, Wilhelm, Jochen, additional, Barwick, Stephanie, additional, Krieb, Phillipp, additional, Fuenderich, Meike, additional, Fischer, Patrick, additional, Gall, Henning, additional, Ghofrani, Hossein‐Ardeschir, additional, Grimminger, Friedrich, additional, Tello, Khodr, additional, Richter, Manuel J., additional, and Seeger, Werner, additional

Published
2022
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65. Oral anticoagulants (NOAC and VKA) in chronic thromboembolic pulmonary hypertension

Author

Humbert, Marc, primary, Simonneau, Gérald, additional, Pittrow, David, additional, Delcroix, Marion, additional, Pepke-Zaba, Joanna, additional, Langleben, David, additional, Mielniczuk, Lisa M., additional, Escribano Subias, Pilar, additional, Snijder, Repke J., additional, Barberà, Joan A., additional, Klotsche, Jens, additional, Meier, Christian, additional, and Hoeper, Marius M., additional

Published
2022
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66. Supplementation of iron in pulmonary hypertension: Rationale and design of a phase II clinical trial in idiopathic pulmonary arterial hypertension

Author

Howard, Luke S.G.E., Watson, Geoffrey M.J., Wharton, John, Rhodes, Christopher J., Chan, Kakit, Khengar, Rajeshree, Robbins, Peter A., Kiely, David G., Condliffe, Robin, Elliott, Charlie A., Pepke-Zaba, Joanna, Sheares, Karen, Morrell, Nicholas W., Davies, Rachel, Ashby, Deborah, Gibbs, J. Simon R., and Wilkins, Martin R.

Published
2013
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67. Mendelian randomisation and experimental medicine approaches to IL-6 as a drug target in PAH

Author

Toshner, Mark, Church, Colin, Harbaum, Lars, Rhodes, Christopher, Villar Moreschi, Sofia S, Liley, James, Jones, Rowena, Arora, Amit, Batai, Ken, Desai, Ankit A, Coghlan, John G, Gibbs, J Simon R, Gor, Dee, Gräf, Stefan, Harlow, Louise, Hernandez-Sanchez, Jules, Howard, Luke S, Humbert, Marc, Karnes, Jason, Kiely, David G, Kittles, Rick, Knightbridge, Emily, Lam, Brian, Lutz, Katie A, Nichols, William C, Pauciulo, Michael W, Pepke-Zaba, Joanna, Suntharalingam, Jay, Soubrier, Florent, Trembath, Richard C, Schwantes-An, Tae-Hwi L, Wort, S John, Wilkins, Martin, Gaine, Sean, Morrell, Nicholas W, Corris, Paul A, Toshner, Mark [0000-0002-3969-6143], Villar, Sofia [0000-0001-7755-2637], Jones, Rowena [0000-0002-4551-2320], Graf, Stefan [0000-0002-1315-8873], Lam, Brian [0000-0002-3638-9025], Morrell, Nicholas [0000-0001-5700-9792], Apollo - University of Cambridge Repository, and British Heart Foundation

Subjects
Adult, Male, Pulmonary Arterial Hypertension, Biomedical Research, Interleukin-6, Respiratory System, Uniphy Clinical Trials Network, Middle Aged, Treatment Outcome, Humans, Familial Primary Pulmonary Hypertension, Female, 11 Medical and Health Sciences, Aged
Abstract

Inflammation and dysregulated immunity are important in the development of pulmonary arterial hypertension. Compelling preclinical data supports the therapeutic blockade of interleukin-6 signalling.We conducted an open-label phase-II study of intravenous tocilizumab (8 mg·kg-1) over 6 months in group 1 pulmonary arterial hypertension. Co-primary endpoints were safety, defined by incidence and severity of adverse events, and change in pulmonary vascular resistance. Separately, a Mendelian randomisation study was undertaken on 11,744 individuals with European ancestry including 2085 patients with idiopathic/heritable disease for the IL6R variant (rs7529229), known to associate with circulating IL6R levels.Twenty-nine patients (M/F 10/19; mean age 54.9[SD11.4]) were recruited. Nineteen had heritable/idiopathic and ten connective tissue disease associated pulmonary arterial hypertension. Six were withdrawn prior to drug administration. Twenty-three patients received at least one dose of tocilizumab. Tocilizumab was discontinued in 4 patients due to serious adverse events. There were no deaths. Despite evidence of target engagement in plasma interleukin-6 and C-reactive protein levels, both intention-to-treat and modified intention-to-treat analyses demonstrated no change in pulmonary vascular resistance. Inflammatory markers did not predict treatment response. Mendelian randomisation did not support an effect of the lead IL6R variant on risk of pulmonary arterial hypertension (OR 0.99, p=0.88).Adverse events were consistent with the known safety profile of tocilizumab. Tocilizumab did not show any consistent treatment effect.

Published
2022
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68. Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

Author

Rhodes, Christopher J., Ghataorhe, Pavandeep, Wharton, John, Rue-Albrecht, Kevin C., Hadinnapola, Charaka, Watson, Geoffrey, Bleda, Marta, Haimel, Matthias, Coghlan, Gerry, Corris, Paul A., Howard, Luke S., Kiely, David G., Peacock, Andrew J., Pepke-Zaba, Joanna, Toshner, Mark R., Wort, S. John, Gibbs, J. Simon R., Lawrie, Allan, Gräf, Stefan, Morrell, Nicholas W., and Wilkins, Martin R.

Published
2017
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74. Pulmonary Vascular Research Institute GoDeep: A meta-registry merging deep phenotyping datafrom international PH reference centers

Author

Majeed, Raphael W., Wilkins, Martin R., Howard, Luke, Hassoun, Paul M., Anthi, Anastasia, Cajigas, Hector R., Cannon, John, Chan, Stephen Y., Damonte, Victoria, Elwing, Jean, Förster, Kai, Frantz, Robert, Ghio, Stefano, Al Ghouleh, Imad, Hilgendorff, Anne, Jose, Arun, Juaneda, Ernesto, Kiely, David G., Lawrie, Allan, Orfanos, Stylianos E., Pepe, Antonella, Pepke-Zaba, Joanna, Sirenko, Yuriy, Swett, Andrew J., Torbas, Olena, Zamanian, Roham T., Marquardt, Kurt, Michel-Backofen, Achim, Antoine, Tobiah, Wilhelm, Jochen, Barwick, Stephanie, Krieb, Phillipp, Fuenderich, Meike, Fischer, Patrick, Gall, Henning, Ghofrani, Hossein-Ardeschir, Grimminger, Friedrich, Tello, Khodr, Richter, Manuel J., Seeger, Werner, and Justus Liebig University Giessen

Subjects
ddc:540
Published
2022
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75. Доклад ERS по хронической тромбоэмболической легочной гипертензии

Author

Delcroix, Marion, Torbicki, Adam, Gopalan, Deepa, Sitbon, Olivier, Klok, Frederikus A., Lang, Irene, Jenkins, David, Kim, Nick H., Humbert, Marc, Jais, Xavier, Vonk Noordegraaf, Anton, Pepke-Zaba, Joanna, Brénot, Philippe, Dorfmuller, Peter, Fadel, Elie, Ghofrani, Hossein-Ardeschir, Hoeper, Marius M., Jansa, Pavel, Madani, Michael, Matsubara, Hiromi, Ogo, Takeshi, Grunig, Ekkehard, D'Armini, Andrea, Galie, Nazzareno, Meyer, Bernhard, Corkery, Patrick, Meszaros, Gergely, Mayer, Eckhard, Simonneau, G. rald, Pulmonary medicine, and ACS - Pulmonary hypertension & thrombosis

Abstract

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare complication of acute pulmonary embolism, either symptomatic or not. The occlusion of proximal pulmonary arteries by fibrotic intravascular material, in combination with a secondary microvasculopathy of vessels < 500 μm, leads to increased pulmonary vascular resistance and progressive right heart failure. The mechanism responsible for the transformation of red clots into fibrotic material remnants has not yet been elucidated. In patients with pulmonary hypertension, the diagnosis is suspected when a ventilation/perfusion lung scan shows mismatched perfusion defects, and confirmed by right heart catheterisation and vascular imaging. Today, in addition to lifelong anticoagulation, treatment modalities include surgery, angioplasty and medical treatment according to the localisation and characteristics of the lesions. This statement outlines a review of the literature and current practice concerning diagnosis and management of CTEPH. It covers the definitions, diagnosis, epidemiology, follow-up after acute pulmonary embolism, pathophysiology, treatment by pulmonary endarterectomy, balloon pulmonary angioplasty, drugs and their combination, rehabilitation and new lines of research in CTEPH. It represents the first collaboration of the European Respiratory Society, the International CTEPH Association and the European Reference Network-Lung in the pulmonary hypertension domain. The statement summarises current knowledge, but does not make formal recommendations for clinical practice.

Published
2022

78. Evaluation and management of patients with chronic thromboembolic pulmonary hypertension - consensus statement from the ISHLT

Author

de Perrot, Marc, primary, Gopalan, Deepa, additional, Jenkins, David, additional, Lang, Irene M., additional, Fadel, Elie, additional, Delcroix, Marion, additional, Benza, Raymond, additional, Heresi, Gustavo A., additional, Kanwar, Manreet, additional, Granton, John T., additional, McInnis, Micheal, additional, Klok, Frederikus A., additional, Kerr, Kim M., additional, Pepke-Zaba, Joanna, additional, Toshner, Mark, additional, Bykova, Anastasia, additional, D’Armini, Andrea M., additional, Robbins, Ivan M., additional, Madani, Michael, additional, McGiffin, David, additional, Wiedenroth, Christoph B., additional, Mafeld, Sebastian, additional, Opitz, Isabelle, additional, Mercier, Olaf, additional, Uber, Patricia A., additional, Frantz, Robert P., additional, and Auger, William R., additional

Published
2021
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79. Whole-genome sequencing of patients with rare diseases in a national health system

Author

Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, and Project, NIHR BioResource for the 100,000 Genomes

Subjects
0301 basic medicine, Erythrocytes, Internationality, Databases, Factual, National Health Programs, [SDV]Life Sciences [q-bio], Disease, VARIANTS, Genome, State Medicine, NIHR BioResource for the 100,000 Genomes Project, 0302 clinical medicine, Medicine, GATA1 Transcription Factor, Genetics, Multidisciplinary, Translational bioinformatics, ASSOCIATION, 3. Good health, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, disease genetics, Medical genetics, Science & Technology - Other Topics, Receptors, Thrombopoietin, medicine.medical_specialty, General Science & Technology, Quantitative Trait Loci, Genomics, Computational biology, Biology, DIAGNOSIS, computational biology and bioinformatics, Actin-Related Protein 2-3 Complex, Article, LRBA, LINKS, 03 medical and health sciences, Rare Diseases, Humans, Alleles, Adaptor Proteins, Signal Transducing, Whole genome sequencing, National health, Science & Technology, Whole Genome Sequencing, MUTATIONS, business.industry, THROMBOCYTOPENIA, United Kingdom, MACROTHROMBOCYTOPENIA, genetics research, 030104 developmental biology, business, Rare disease
Abstract

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.

Published
2021

80. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

Author

Humbert, Marc, Kovacs, Gabor, Hoeper, Marius M, Badagliacca, Roberto, Berger, Rolf MF, Brida, Margarita, Carlsen, Jørn, Coats, Andrew JS, Escribano-Subias, Pilar, Ferrari, Pisana, Ferreira, Diogenes S, Ghofrani, Hossein Ardeschir, Giannakoulas, George, Kiely, David G, Mayer, Eckhard, Meszaros, Gergely, Nagavci, Blin, Olsson, Karen M, Pepke-Zaba, Joanna, Quint, Jennifer K, Rådegran, Göran, Simonneau, Gerald, Sitbon, Olivier, Tonia, Thomy, Toshner, Mark, Vachiery, Jean-Luc, Vonk Noordegraaf, Anton, Delcroix, Marion, Rosenkranz, Stephan, ESC/ERS Scientific Document Group, Toshner, Mark [0000-0002-3969-6143], and Apollo - University of Cambridge Repository

Subjects
Endothelin Receptor Antagonists, Pulmonary and Respiratory Medicine, lung disease, diagnosis, chronic thrombo-embolic pulmonary hypertension, Hypertension, Pulmonary, pulmonary endarterectomy, prostacyclin receptor agonists, guidelines, treatment, pulmonary hypertension, left heart disease, pulmonary arterial hypertension, lung transplantation, Humans, 610 Medicine & health, Evidence-Based Medicine, 360 Soziale Probleme, Sozialdienste, prostacyclin analogues, congenital heart disease, balloon pulmonary angioplasty, connective tissue disease, endothelin receptor antagonists, phosphodiesterase type 5 inhibitors, soluble guanylate cyclase stimulators, Cardiology and Cardiovascular Medicine, 610 Medizin und Gesundheit, Algorithms, 360 Social problems & social services
Published
2022

81. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Author

Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Shen, Yufeng, Gräf, Stefan, Nichols, William C., Chung, Wendy K., Hirsch, Russel, White, R. James, Simon, Marc, Badesch, David, Rosenzweig, Erika, Burger, Charles, Chakinala, Murali, Thenappan, Thenappan, Elliott, Greg, Simms, Robert, Farber, Harrison, Frantz, Robert, Elwing, Jean, Hill, Nicholas, Ivy, Dunbar, Klinger, James, Nathan, Steven, Oudiz, Ronald, Robbins, Ivan, Schilz, Robert, Fortin, Terry, Wilt, Jeffrey, Yung, Delphine, Austin, Eric, Ahmad, Ferhaan, Bhatt, Nitin, Lahm, Tim, Frost, Adaani, Safdar, Zeenat, Rehman, Zia, Walter, Robert, Torres, Fernando, Bakshi, Sahil, Archer, Stephen, Argula, Rahul, Barnett, Christopher, Benza, Raymond, Desai, Ankit, Maddipati, Veeranna, Bogaard, Harm J., Church, Colin, Coghlin, Gerry, Condliffe, Robin, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Penkett, Christopher J., Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Swift, Andrew J., Toshner, Mark R., Noordegraaf, Anton Vonk, Wharton, John, Wild, Jim, Wort, Stephen John, and Apollo - University of Cambridge Repository

Subjects
Exome sequencing, Case-control association testing, Research, FOS: Biological sciences, Genetics, De novo variant analysis, Pulmonary arterial hypertension, Genome sequencing
Abstract

Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 (BMPR2) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. Methods: To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource – Rare Diseases Study. The strength of this combined cohort is a doubling of the number of IPAH cases compared to either national cohort alone. We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. We also analyzed de novo variants in 124 pediatric trios enriched for IPAH and APAH-CHD. Results: Seven genes with rare deleterious variants were associated with IPAH with false discovery rate smaller than 0.1: three known genes (BMPR2, GDF2, and TBX4), two recently identified candidate genes (SOX17, KDR), and two new candidate genes (fibulin 2, FBLN2; platelet-derived growth factor D, PDGFD). The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. For pediatric PAH, predicted deleterious de novo variants exhibited a significant burden compared to the background mutation rate (2.45×, p = 2.5e−5). At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. Conclusions: Rare variant analysis of a large international consortium identified two new candidate genes—FBLN2 and PDGFD. The new genes have known functions in vasculogenesis and remodeling. Trio analysis predicted that ~ 15% of pediatric IPAH may be explained by de novo variants.

Published
2021
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82. Serial right heart catheter assessment between balloon pulmonary angioplasty sessions identify procedural factors that influence response to treatment

Author

Hug, Karsten P., primary, Gerry Coghlan, J., additional, Cannon, John, additional, Taboada, Dolores, additional, Toshner, Mark, additional, Sheares, Karen, additional, Ruggiero, Alessandro, additional, Screaton, Nicholas, additional, Jenkins, David, additional, Pepke-Zaba, Joanna, additional, and Hoole, Stephen P., additional

Published
2021
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83. Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension

Author

Toshner, Mark, primary, Church, Colin, additional, Harbaum, Lars, additional, Rhodes, Christopher, additional, Villar Moreschi, Sofia S., additional, Liley, James, additional, Jones, Rowena, additional, Arora, Amit, additional, Batai, Ken, additional, Desai, Ankit A., additional, Coghlan, John G., additional, Gibbs, J. Simon R., additional, Gor, Dee, additional, Gräf, Stefan, additional, Harlow, Louise, additional, Hernandez-Sanchez, Jules, additional, Howard, Luke S., additional, Humbert, Marc, additional, Karnes, Jason, additional, Kiely, David G., additional, Kittles, Rick, additional, Knightbridge, Emily, additional, Lam, Brian, additional, Lutz, Katie A., additional, Nichols, William C., additional, Pauciulo, Michael W., additional, Pepke-Zaba, Joanna, additional, Suntharalingam, Jay, additional, Soubrier, Florent, additional, Trembath, Richard C., additional, Schwantes-An, Tae-Hwi L., additional, Wort, S. John, additional, Wilkins, Martin R., additional, Gaine, Sean, additional, Morrell, Nicholas W., additional, and Corris, Paul A., additional

Published
2021
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84. Late Breaking Abstract - Implications of new PH definition for CTEPD

Author

Reddy, Ashwin, primary, Swietlik, Emilia, additional, Robertson, Lucy, additional, Michael, Alice, additional, Boyle, Sonja, additional, Polwarth, Gary, additional, Taboada, Dolores, additional, Hadinnapola, Charaka, additional, Cannon, John, additional, Sheares, Karen, additional, Toshner, Mark, additional, and Pepke-Zaba, Joanna, additional

Published
2021
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85. Current strategies for managing CTEPH

Author

Delcroix, Marion, primary, Pepke-Zaba, Joanna, additional, Fadel, Elie, additional, Jenkins, David, additional, Kim, Nick, additional, Madani, Michael, additional, Matsubara, Hiromi, additional, Simonneau, Gerald, additional, Mayer, Eckhard, additional, and Lang, Irene, additional

Published
2021
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87. 2014 ESC Guidelines on the diagnosis and management of acute pulmonary embolism: The Task Force for the Diagnosis and Management of Acute Pulmonary Embolism of the European Society of Cardiology (ESC)Endorsed by the European Respiratory Society (ERS)

Author

Konstantinides, Stavros V., Torbicki, Adam, Agnelli, Giancarlo, Danchin, Nicolas, Fitzmaurice, David, Galiè, Nazzareno, Gibbs, J. Simon R., Huisman, Menno V., Humbert, Marc, Kucher, Nils, Lang, Irene, Lankeit, Mareike, Lekakis, John, Maack, Christoph, Mayer, Eckhard, Meneveau, Nicolas, Perrier, Arnaud, Pruszczyk, Piotr, Rasmussen, Lars H., Schindler, Thomas H., Svitil, Pavel, Vonk Noordegraaf, Anton, Zamorano, Jose Luis, Zompatori, Maurizio, Zamorano, Jose Luis, Achenbach, Stephan, Baumgartner, Helmut, Bax, Jeroen J., Bueno, Hector, Dean, Veronica, Deaton, Christi, Erol, Çetin, Fagard, Robert, Ferrari, Roberto, Hasdai, David, Hoes, Arno, Kirchhof, Paulus, Knuuti, Juhani, Kolh, Philippe, Lancellotti, Patrizio, Linhart, Ales, Nihoyannopoulos, Petros, Piepoli, Massimo F., Ponikowski, Piotr, Sirnes, Per Anton, Tamargo, Juan Luis, Tendera, Michal, Torbicki, Adam, Wijns, William, Windecker, Stephan, Erol, Çetin, Jimenez, David, Ageno, Walter, Agewall, Stefan, Asteggiano, Riccardo, Bauersachs, Rupert, Becattini, Cecilia, Bounameaux, Henri, Büller, Harry R., Davos, Constantinos H., Deaton, Christi, Geersing, Geert-Jan, Sanchez, Miguel Angel Gómez, Hendriks, Jeroen, Hoes, Arno, Kilickap, Mustafa, Mareev, Viacheslav, Monreal, Manuel, Morais, Joao, Nihoyannopoulos, Petros, Popescu, Bogdan A., Sanchez, Olivier, Spyropoulos, Alex C., Skoro-Sajer, Nika, Najafov, Ruslan, Sudzhaeva, Svetlana, De Pauw, Michel, Baraković, Fahir, Tokmakova, Mariya, Skoric, Bosko, Rokyta, Richard, Hansen, Morten Lock, Elmet, Märt, Harjola, Veli-Pekka, Meyer, Guy, Chukhrukidze, Archil, Rosenkranz, Stephan, Androulakis, Aristides, Forster, Tamás, Fedele, Francesco, Sooronbaev, Talant, Maca, Aija, Ereminiene, Egle, Micallef, Josef, Andreasen, Arne, Kurzyna, Marcin, Ferreira, Daniel, Petris, Antoniu Octavian, Dzemeshkevich, Sergey, Asanin, Milika, Šimkova, Iveta, Anguita, Manuel, Christersson, Christina, Kostova, Nela, Baccar, Hedi, Sade, Leyla Elif, Parkhomenko, Alexander, and Pepke-Zaba, Joanna

Published
2014
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88. Supplementation with Iron in Pulmonary Arterial Hypertension. Two Randomized Crossover Trials

Author

Howard, Luke S. G. E., primary, He, Jianguo, additional, Watson, Geoffrey M. J., additional, Huang, Li, additional, Wharton, John, additional, Luo, Qin, additional, Kiely, David G., additional, Condliffe, Robin, additional, Pepke-Zaba, Joanna, additional, Morrell, Nicholas W., additional, Sheares, Karen K., additional, Ulrich, Anna, additional, Quan, Ruilin, additional, Zhao, Zhihui, additional, Jing, Xiaoli, additional, An, Chenhong, additional, Liu, Zhihong, additional, Xiong, Changming, additional, Robbins, Peter A., additional, Dawes, Timothy, additional, de Marvao, Antonio, additional, Rhodes, Christopher J., additional, Richter, Manuel J., additional, Gall, Henning, additional, Ghofrani, Hossein A., additional, Zhao, Lan, additional, Huson, Les, additional, and Wilkins, Martin R., additional

Published
2021
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89. Direct influence of BMPR2-mutations on cytokine patterns and biomarker effectiveness in pulmonary arterial hypertension.

Author

Schwiening, Max, primary, Swietlik, Emilia, additional, Pandya, Divya, additional, Burling, Keith, additional, Barker, Peter, additional, Treacy, Carmen, additional, Abreu, Susana, additional, Wort, John, additional, Pepke-Zaba, Joanna, additional, Graf, Stefan, additional, Marciniak, Stefan, additional, Morrell, Nicholas, additional, and Soon, Elaine, additional

Published
2021
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90. sj-pdf-2-pul-10.1177_2045894021995055 - Supplemental material for A minimal clinically important difference measured by the Cambridge Pulmonary Hypertension Outcome Review for patients with idiopathic pulmonary arterial hypertension

Author

Bunclark, Katherine, Doughty, Natalie, Michael, Alice, Abraham, Nisha, Ali, Samantha, Cannon, John E, Sheares, Karen, Speed, Nicola, Taboada, Dolores, Toshner, Mark, and Pepke-Zaba, Joanna

Subjects
110203 Respiratory Diseases, FOS: Clinical medicine, Cardiology
Abstract

Supplemental material, sj-pdf-2-pul-10.1177_2045894021995055 for A minimal clinically important difference measured by the Cambridge Pulmonary Hypertension Outcome Review for patients with idiopathic pulmonary arterial hypertension by Katherine Bunclark, Natalie Doughty, Alice Michael, Nisha Abraham, Samantha Ali, John E Cannon, Karen Sheares, Nicola Speed, Dolores Taboada, Mark Toshner and Joanna Pepke-Zaba in Pulmonary Circulation

Published
2021
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91. Additional file 1 of PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic

Author

Godinas, Laurent, Iyer, Keerthana, Meszaros, Gergely, Quarck, Rozenn, Escribano-Subias, Pilar, Vonk Noordegraaf, Anton, Jansa, Pavel, D’Alto, Michele, Luknar, Milan, Milutinov Ilic, Senka, Belge, Catharina, Sitbon, Olivier, Reis, Abílio, Rosenkranz, Stephan, Pepke-Zaba, Joanna, Humbert, Marc, and Delcroix, Marion

Abstract

Additional file 1. English questionnaire of the survey.

Published
2021
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92. Additional file 2 of PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic

Author

Godinas, Laurent, Iyer, Keerthana, Meszaros, Gergely, Quarck, Rozenn, Escribano-Subias, Pilar, Vonk Noordegraaf, Anton, Jansa, Pavel, D’Alto, Michele, Luknar, Milan, Milutinov Ilic, Senka, Belge, Catharina, Sitbon, Olivier, Reis, Abílio, Rosenkranz, Stephan, Pepke-Zaba, Joanna, Humbert, Marc, and Delcroix, Marion

Abstract

Additional File 2. Complete results of the answers to the questionnaire.

Published
2021
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93. sj-pdf-1-pul-10.1177_2045894021995055 - Supplemental material for A minimal clinically important difference measured by the Cambridge Pulmonary Hypertension Outcome Review for patients with idiopathic pulmonary arterial hypertension

Author

Bunclark, Katherine, Doughty, Natalie, Michael, Alice, Abraham, Nisha, Ali, Samantha, Cannon, John E, Sheares, Karen, Speed, Nicola, Taboada, Dolores, Toshner, Mark, and Pepke-Zaba, Joanna

Subjects
110203 Respiratory Diseases, FOS: Clinical medicine, Cardiology
Abstract

Supplemental material, sj-pdf-1-pul-10.1177_2045894021995055 for A minimal clinically important difference measured by the Cambridge Pulmonary Hypertension Outcome Review for patients with idiopathic pulmonary arterial hypertension by Katherine Bunclark, Natalie Doughty, Alice Michael, Nisha Abraham, Samantha Ali, John E Cannon, Karen Sheares, Nicola Speed, Dolores Taboada, Mark Toshner and Joanna Pepke-Zaba in Pulmonary Circulation

Published
2021
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94. Riociguat treatment in patients with pulmonary arterial hypertension: Final safety data from the EXPERT registry

Author

Hoeper, Marius M., Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gerald, Gall, Henning, Gruenig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Subias, Pilar Escribano, Mielniczuk, Lisa M., Lange, Tobias J., Vachiery, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barbera, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Simkova, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, Ghofrani, Hossein-Ardeschir, Hoeper, Marius M., Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gerald, Gall, Henning, Gruenig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Subias, Pilar Escribano, Mielniczuk, Lisa M., Lange, Tobias J., Vachiery, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barbera, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Simkova, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, and Ghofrani, Hossein-Ardeschir

Abstract

Objective: The soluble guanylate cyclase stimulator riociguat is approved for the treatment of adult patients with pulmonary arterial hypertension (PAH) and inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension following Phase 3 randomized trials. The EXPosurE Registry RiociguaT in patients with pulmonary hypertension (EXPERT) study was designed to monitor the long-term safety of riociguat in clinical practice. Methods: EXPERT was an international, multicenter, prospective, uncontrolled, non-interventional cohort study of patients treated with riociguat. Patients were followed for at least 1 year and up to 4 years from enrollment or until 30 days after stopping riociguat treatment. Primary safety outcomes were adverse events (AEs) and serious adverse events (SAEs) coded using Medical Dictionary for Regulatory Activities preferred terms and System Organ Classes version 21.0, collected during routine clinic visits (usually every 3-6 months) and collated via case report forms. Results: In total, 326 patients with PAH were included in the analysis. The most common AEs in these patients were dizziness (11.7%), right ventricular (RV)/cardiac failure (10.7%), edema/peripheral edema (10.7%), diarrhea (8.6%), dyspnea (8.0%), and cough (7.7%). The most common SAEs were RV/cardiac failure (10.1%), pneumonia (6.1%), dyspnea (4.0%), and syncope (3.4%). The exposure-adjusted rate of hemoptysis/pulmonary hemorrhage was 2.5 events per 100 patient-years. Conclusion: Final data from EXPERT show that in patients with PAH, the safety of riociguat in clinical practice was consistent with clinical trials, with no new safety concerns identified and a lower exposure-adjusted rate of hemoptysis/pulmonary hemorrhage than in the long-term extension of the Phase 3 trial in PAH.

Published
2021

95. Riociguat treatment in patients with chronic thromboembolic pulmonary hypertension: Final safety data from the EXPERT registry

Author

Ghofrani, Hossein-Ardeschir, Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gerald, Gall, Henning, Gruenig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Subias, Pilar Escribano, Mielniczuk, Lisa M., Lange, Tobias J., Vachiery, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barbera, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Simkova, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, Hoeper, Marius M., Ghofrani, Hossein-Ardeschir, Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gerald, Gall, Henning, Gruenig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Subias, Pilar Escribano, Mielniczuk, Lisa M., Lange, Tobias J., Vachiery, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barbera, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Simkova, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, and Hoeper, Marius M.

Abstract

Objective: The soluble guanylate cyclase stimulator riociguat is approved for the treatment of adult patients with pulmonary arterial hypertension (PAH) and inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) following Phase 3 randomized trials. The EXPosurE Registry RiociguaT in patients with pulmonary hypertension (EXPERT) study was designed to monitor the long-term safety of riociguat in clinical practice. Methods: EXPERT was an international, multicenter, prospective, uncontrolled, non-interventional cohort study of patients treated with riociguat. Patients were followed for at least 1 year and up to 4 years from enrollment or until 30 days after stopping riociguat treatment. Primary safety outcomes were adverse events (AEs) and serious adverse events (SAEs) coded using Medical Dictionary for Regulatory Activities preferred terms and System Organ Classes version 21.0, collected during routine clinic visits and collated via case report forms. Results: In total, 956 patients with CTEPH were included in the analysis. The most common AEs in these patients were peripheral edema/edema (11.7%), dizziness (7.5%), right ventricular (RV)/cardiac failure (7.7%), and pneumonia (5.0%). The most common SAEs were RV/cardiac failure (7.4%), pneumonia (4.1%), dyspnea (3.6%), and syncope (2.5%). Exposure-adjusted rates of hemoptysis/pulmonary hemorrhage and hypotension were low and comparable to those in the long-term extension study of riociguat (Chronic Thromboembolic Pulmonary Hypertension Soluble Guanylate Cyclase-Stimulator Trial [CHEST-2]). Conclusion: Data from EXPERT show that in patients with CTEPH, the safety of riociguat in routine practice was consistent with the known safety profile of the drug, and no new safety concerns were identified.

Published
2021

96. Bosentan for Treatment of Inoperable Chronic Thromboembolic Pulmonary Hypertension: BENEFiT (Bosentan Effects in iNopErable Forms of chronIc Thromboembolic pulmonary hypertension), a Randomized, Placebo-Controlled Trial

Author

Jaïs, Xavier, D'Armini, Andrea M., Jansa, Pavel, Torbicki, Adam, Delcroix, Marion, Ghofrani, Hossein A., Hoeper, Marius M., Lang, Irene M., Mayer, Eckhard, Pepke-Zaba, Joanna, Perchenet, Loïc, Morganti, Adele, Simonneau, Gérald, and Rubin, Lewis J.

Published
2008
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100. A minimal clinically important difference measured by the Cambridge Pulmonary Hypertension Outcome Review for patients with idiopathic pulmonary arterial hypertension

Author

Bunclark, Katherine, primary, Doughty, Natalie, additional, Michael, Alice, additional, Abraham, Nisha, additional, Ali, Samantha, additional, Cannon, John E, additional, Sheares, Karen, additional, Speed, Nicola, additional, Taboada, Dolores, additional, Toshner, Mark, additional, and Pepke‐Zaba, Joanna, additional

Published
2021
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