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2. Worldwide CTEPH Registry: Long-Term Outcomes With Pulmonary Endarterectomy, Balloon Pulmonary Angioplasty, and Medical Therapy

Author

Delcroix, Marion, Pepke-Zaba, Joanna, D’Armini, Andrea M., Fadel, Elie, Guth, Stefan, Hoole, Stephen P., Jenkins, David P., Kiely, David G., Kim, Nick H., Madani, Michael M., Matsubara, Hiromi, Nakayama, Kazuhiko, Ogawa, Aiko, Ota-Arakaki, Jaquelina S., Quarck, Rozenn, Sadushi-Kolici, Roela, Simonneau, Gérald, Wiedenroth, Christoph B., Yildizeli, Bedrettin, Mayer, Eckhard, and Lang, Irene M.

Published
2024
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6. Evaluation and management of patients with chronic thromboembolic pulmonary hypertension - consensus statement from the ISHLT

Author

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

Published
2021
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8. Riociguat treatment in patients with chronic thromboembolic pulmonary hypertension: Final safety data from the EXPERT registry

Author

Caneva, Jorge, Tuhay, Graciela, Diez, Mirta, Talavera, Maria Lujan, Acosta, Adriana, Vulcano, Norberto, Bosio, Martin, Maldonado, Lorena, Deleo, Sabino, Melatini, Luciano, Keogh, Anne, Kotlyar, Eugene, Feenstra, John, Dwyer, Nathan, Adams, Heath, Stevens, Wendy, Steele, Peter, Proudman, Susanna, Minson, Robert, Reeves, Glenn, Lavender, Melanie, Ng, Benjamin, Mackenzie, Michele, Barry, Lisa, Gruenberger, Margarethe, Huber, Charlotte, Lang, Irene, Tilea, Ioana, Sadushi-Kolici, Roela, Löffler-Ragg, Judith, Feistmantl, Lisa-Theresa, Evrard, Patrick, Louis, Renaud, Guiot, Julien, Naldi, Marco, De Pauw, Michel, Mehta, Sanjay, Camacho, Rafael Conde, Tovar, Patricia Parada, Londoño, Alejandro, Campo, Felipe, Garcia, Paula, Lema, Camila, Orozco-Levi, Mauricio, Martinez, William, Gomez, Juan Esteban, Nielsen-Kudsk, Jens Erik, Mellemkjaer, Soren, Anton, Ly, Altraja, Alan, Vihinen, Tapani, Vasankari, Tuija, Sitbon, Olivier, Cottin, Vincent, Têtu, Laurent, Noël-Savina, Elise, Shearman, Nicole, Tayler, Susanne, Olzik, Ilona, Kulka, Christine, Grimminger, Jan, Simon, Marcel, Nolde, Anna, Oqueka, Tim, Harbaum, Lars, Egenlauf, Benjamin, Ewert, Ralf, Schulz, Christian, Regotta, Sabine, Kramer, Tilmann, Knoop-Busch, Susanne, Gerhardt, Felix, Konstantinides, Stavros, Pitsiou, Georgia, Stanopoulos, Ioannis, Sourla, Evdokia, Mouratoglou, Sofia, Karvounis, Haralambos, Pappas, Athanasios, Georgopoulos, Dimitrios, Fanaridis, Michail, Mitrouska, Ioanna, Michalis, Lampros, Pappas, Konstantinos, Kotsia, Anna, Gaine, Sean, Vizza, Carmine Dario, Manzi, Giovanna, Poscia, Roberto, Badagliacca, Roberto, Agostoni, Piergiuseppe, Bruno, Noemi, Farina, Stefania, D'Alto, Michele, Argiento, Paola, Correra, Anna, Di Marco, Giovanni Maria, Cresci, Chiara, Vannucchi, Vieri, Torricelli, Elena, Garcea, Alessio, Pesci, Alberto, Sardella, Luca, Paciocco, Giuseppe, Pane, Federico, D'Armini, Andrea Maria, Pin, Maurizio, Grazioli, Valentina, Massola, Giulia, Sciortino, Antonio, Prediletto, Renato, Bauleo, Carolina, Airò, Edoardo, Ndreu, Rudina, Pavlickova, Ivana, Lunardi, Claudio, Mulè, Massimiliano, Farruggio, Silvia, Costa, Serena, Galgano, Giuseppe, Petruzzi, Mario, De Luca, Anna, Lombardi, Francesco, Roncon, Loris, Conte, Luca, Picariello, Claudio, Wirtz, Gil, Alexandre, Myriam, Vonk-Noordegraaf, A., Boogaard, H., Mager, J., Reesink, H., van den Toorn, Leon M., Boomars, Karin, Andreassen, Arne K., Castro, Graça, Tania, Gonçalves, Baptista, Rui, Marinho, António, Shiang, Teresa, Oliveira, Ana, Coutinho, Daniel, Sousa, Joana, Loureiro, Maria José, Repolho, Débora, Martins Jesus, Susana Maria, Capinha, Marta, Agostinho, João, Cardoso, Tania, Rocha, Andreia, Espinha, Mafalda, Ivanov, Kyundyul Ivanovich, Alexeeva, Dalyana Eduardovna, Batalina, Marina Vadimovna, Hegya, Daria Viktorovna, Zvereva, Tatyana Nikolaevna, Avdeev, Sergey Nikolaevich, Tsareva, Natalia Anatolievna, Galyavich, Albert Sarvatovich, Nikolaevich, Bykov Aleksander, Filippov, Evgeny Vladimirovich, Yakovleva, Olga Eduardovna, Pavlova, Olga Borisovna, Skripkina, Elena Sergeevna, Martynyuk, Tamila Vitalievna, Bukatova, Irina Fedorovna, Tregubova, Anna Viktorovna, Platonov, Dmitry Yurievich, Kolomeytseva, Tatyana Mikhaylovna, Al Dalaan, Abdullah, Abdelsayed, Abeer Abeer, Weheba, Ihab, Saleemi, Sarferaz, Sakkijha, Hussam, Bohacekova, Marcela, Valkovicova, Tatiana, Farkasova, Iveta, Quezada, Carlos Andres, Piccari, Lucilla, Blanco, Isabel, Sebastian, Laura, Roman, Antonio, Lopez, Manuel, Otero, Remedios, Elias, Teresa, Jara, Luis, Asencio, Isabel, Arjona, Josefa Jiménez, Almagro, Raúl Menor, Cárdenas, Salvador López, García, Salvador Alcaraz, Rodríguez, Patricia Villanueva, Lopez, Raquel, Garcia, Alberto, Avilés, Francisco Fernandez, De La Pava, Sebastian, Yotti, Raquel, Peñate, Gregorio Pérez, Marrero, Fernando León, Cifrián Martínez, José Manuel, Martinez-Meñaca, Amaya, Alonso, Lecue Pilar, Rozas, Sonia Fernandez, Fernandez, David Iturbe, Cuesta, Victor Mora, Söderberg, Stefan, Bartfay, Sven-Erik, Rundqvist, Bengt, Alfetlawi, Monthir, Wodlin, Peter, Schwarz, Esther Irene, Speich, Rudolf, Lador, Frédéric, Rochat, Thierry, Gasche-Soccal, Paola, Hsu, Chih-Hsin, Lin, Tsung-Hsien, Su, Ho-Ming, Lai, Wen-Ter, Chu, Chun Yuan, Hsu, Po-Chao, Voon, Wen-Chol, Yen, Hsueh-Wei, Yih-Jer Wu, Jacob, Wu, Shu-Hao, Huang, Wen-Pin, Fong, Man-Cai, Huang, Chien-Lung, Kuo, Ping-Hung, Lin, Yen-Hung, Lin, Jiunn-Lee, Hung, Chi-Sheng, Wu, Cho-Kai, Sung, Shih-Hsien, Huang, Wei-Chun, Cheng, Chin-Chang, Kuo, Shu-Hung, Wang, Wen-Hwa, Ho, Wan-Jing, Hsu, Tsu-Shiu, Mutlu, Bülent, Atas, Halil, Ongen, Gul, Un, Zeynep, Okumus, Gulfer, Hanta, Ismail, Corris, Paul, Peacock, Andrew, Church, Colin, Toshner, Mark, Newnham, Michael, Ghofrani, Hossein-Ardeschir, Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gérald, Gall, Henning, Grünig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Escribano Subias, Pilar, Mielniczuk, Lisa M., Lange, Tobias J., Vachiéry, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barberá, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Šimková, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, and Hoeper, Marius M.

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

Author

Caneva, Jorge, Tuhay, Graciela, Diez, Mirta, Talavera, Maria Lujan, Acosta, Adriana, Vulcano, Norberto, Bosio, Martin, Maldonado, Lorena, Deleo, Sabino, Melatini, Luciano, Keogh, Anne, Kotlyar, Eugene, Feenstra, John, Dwyer, Nathan, Adams, Heath, Stevens, Wendy, Steele, Peter, Proudman, Susanna, Minson, Robert, Reeves, Glenn, Lavender, Melanie, Ng, Benjamin, Mackenzie, Michele, Barry, Lisa, Gruenberger, Margarethe, Huber, Charlotte, Lang, Irene, Tilea, Ioana, Sadushi-Kolici, Roela, Löffler-Ragg, Judith, Feistmantl, Lisa-Theresa, Evrard, Patrick, Guiot, Julien, Naldi, Marco, De Pauw, Michel, Louis, Renaud, Mehta, Sanjay, Camacho, Rafael Conde, Tovar, Patricia Parada, Londoño, Alejandro, Campo, Felipe, Garcia, Paula, Lema, Camila, Orozco-Levi, Mauricio, Martinez, William, Gomez, Juan Esteban, Nielsen-Kudsk, Jens Erik, Mellemkjaer, Soren, Anton, Ly, Altraja, Alan, Vihinen, Tapani, Vasankari, Tuija, Sitbon, Olivier, Cottin, Vincent, Têtu, Laurent, Noël-Savina, Elise, Shearman, Nicole, Tayler, Susanne, Olzik, Ilona, Kulka, Christine, Grimminger, Jan, Simon, Marcel, Nolde, Anna, Oqueka, Tim, Harbaum, Lars, Egenlauf, Benjamin, Ewert, Ralf, Schulz, Christian, Regotta, Sabine, Kramer, Tilmann, Knoop-Busch, Susanne, Gerhardt, Felix, Konstantinides, Stavros, Pitsiou, Georgia, Stanopoulos, Ioannis, Sourla, Evdokia, Mouratoglou, Sofia, Karvounis, Haralambos, Pappas, Athanasios, Mitrouska, Ioanna, Georgopoulos, Dimitrios, Fanaridis, Michail, Michalis, Lampros, Pappas, Konstantinos, Kotsia, Anna, Gaine, Sean, Vizza, Carmine Dario, Manzi, Giovanna, Poscia, Roberto, Badagliacca, Roberto, Agostoni, Piergiuseppe, Bruno, Noemi, Farina, Stefania, D'Alto, Michele, Argiento, Paola, Correra, Anna, Di Marco, Giovanni Maria, Cresci, Chiara, Vannucchi, Vieri, Torricelli, Elena, Garcea, Alessio, Pesci, Alberto, Sardella, Luca, Paciocco, Giuseppe, Pane, Federico, D'Armini, Andrea Maria, Pin, Maurizio, Grazioli, Valentina, Massola, Giulia, Sciortino, Antonio, Prediletto, Renato, Bauleo, Carolina, Airò, Edoardo, Ndreu, Rudina, Pavlickova, Ivana, Lunardi, Claudio, Farruggio, Silvia, Costa, Serena, Mulè, Massimiliano, Galgano, Giuseppe, Petruzzi, Mario, De Luca, Anna, Lombardi, Francesco, Roncon, Loris, Conte, Luca, Picariello, Claudio, Wirtz, Gil, Alexandre, Myriam, Vonk-Noordegraaf, A., Boogaard, H., Mager, J., Reesink, H., van den Toorn, Leon M., Boomars, Karin, Andreassen, Arne K., Castro, Graça, Tania, Gonçalves, Baptista, Rui, Marinho, António, Shiang, Teresa, Oliveira, Ana, Coutinho, Daniel, Sousa, Joana, Loureiro, Maria José, Repolho, Débora, Martins Jesus, Susana Maria, Capinha, Marta, Agostinho, João, Cardoso, Tania, Rocha, Andreia, Espinha, Mafalda, Ivanov, Kyundyul Ivanovich, Alexeeva, Dalyana Eduardovna, Batalina, Marina Vadimovna, Hegya, Daria Viktorovna, Zvereva, Tatyana Nikolaevna, Avdeev, Sergey Nikolaevich, Tsareva, Natalia Anatolievna, Galyavich, Albert Sarvatovich, Nikolaevich, Bykov Aleksander, Filippov, Evgeny Vladimirovich, Yakovleva, Olga Eduardovna, Pavlova, Olga Borisovna, Skripkina, Elena Sergeevna, Martynyuk, Tamila Vitalievna, Bukatova, Irina Fedorovna, Tregubova, Anna Viktorovna, Platonov, Dmitry Yurievich, Kolomeytseva, Tatyana Mikhaylovna, Al Dalaan, Abdullah, Abdelsayed, Abeer Abeer, Weheba, Ihab, Saleemi, Sarferaz, Sakkijha, Hussam, Bohacekova, Marcela, Valkovicova, Tatiana, Farkasova, Iveta, Quezada, Carlos Andres, Piccari, Lucilla, Blanco, Isabel, Sebastian, Laura, Roman, Antonio, Lopez, Manuel, Otero, Remedios, Elias, Teresa, Jara, Luis, Asencio, Isabel, Arjona, Josefa Jiménez, Almagro, Raúl Menor, Cárdenas, Salvador López, García, Salvador Alcaraz, Rodríguez, Patricia Villanueva, Lopez, Raquel, Garcia, Alberto, Avilés, Francisco Fernandez, De La Pava, Sebastian, Yotti, Raquel, Peñate, Gregorio Pérez, Marrero, Fernando León, Cifrián Martínez, José Manuel, Martinez-Meñaca, Amaya, Alonso, Lecue Pilar, Rozas, Sonia Fernandez, Fernandez, David Iturbe, Cuesta, Victor Mora, Söderberg, Stefan, Bartfay, Sven-Erik, Rundqvist, Bengt, Alfetlawi, Monthir, Wodlin, Peter, Schwarz, Esther Irene, Speich, Rudolf, Lador, Frédéric, Rochat, Thierry, Gasche-Soccal, Paola, Hsu, Chih-Hsin, Lin, Tsung-Hsien, Su, Ho-Ming, Lai, Wen-Ter, Chu, Chun Yuan, Hsu, Po-Chao, Voon, Wen-Chol, Yen, Hsueh-Wei, Yih-Jer Wu, Jacob, Wu, Shu-Hao, Huang, Wen-Pin, Fong, Man-Cai, Huang, Chien-Lung, Kuo, Ping-Hung, Lin, Yen-Hung, Lin, Jiunn-Lee, Hung, Chi-Sheng, Wu, Cho-Kai, Sung, Shih-Hsien, Huang, Wei-Chun, Cheng, Chin-Chang, Kuo, Shu-Hung, Wang, Wen-Hwa, Ho, Wan-Jing, Hsu, Tsu-Shiu, Mutlu, Bülent, Atas, Halil, Ongen, Gul, Un, Zeynep, Okumus, Gulfer, Hanta, Ismail, Corris, Paul, Peacock, Andrew, Church, Colin, Toshner, Mark, Newnham, Michael, Hoeper, Marius M., Gomez Sanchez, Miguel-Angel, Humbert, Marc, Pittrow, David, Simonneau, Gérald, Gall, Henning, Grünig, Ekkehard, Klose, Hans, Halank, Michael, Langleben, David, Snijder, Repke J., Escribano Subias, Pilar, Mielniczuk, Lisa M., Lange, Tobias J., Vachiéry, Jean-Luc, Wirtz, Hubert, Helmersen, Douglas S., Tsangaris, Iraklis, Barberà, Joan A., Pepke-Zaba, Joanna, Boonstra, Anco, Rosenkranz, Stephan, Ulrich, Silvia, Steringer-Mascherbauer, Regina, Delcroix, Marion, Jansa, Pavel, Šimková, Iveta, Giannakoulas, George, Klotsche, Jens, Williams, Evgenia, Meier, Christian, and Ghofrani, Hossein-Ardeschir

Published
2021
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12. Circulating Endothelin 1 but Not Transforming Growth Factor-β Levels Are Reduced after Pulmonary Endarterectomy in Subjects Affected by Chronic Thromboembolic Pulmonary Hypertension: A Prospective Cohort Study.

Author

Totaro, Pasquale, Tirelli, Claudio, De Amici, Mara, Grosjean, Fabrizio, Testa, Giorgia, Sacchi, Lucia, De Silvestri, Annalisa, Alloni, Alessia, Kushta, Eraldo, Albertini, Riccardo, Rampino, Teresa, and D'Armini, Andrea Maria

Subjects
PREPROENDOTHELIN, PULMONARY hypertension, VASCULAR remodeling, VASCULAR resistance, CARDIAC output, ENDARTERECTOMY
Abstract

Background and objectives: Endothelin-1 (ET-1) and transforming growth factor-β (TGF-β) play a pivotal role in the pathophysiology and vascular remodeling of chronic thromboembolic pulmonary hypertension (CTEPH) which is an under-diagnosed complication of acute pulmonary embolism (PE). Currently, pulmonary endarterectomy (PEA) is still the treatment of choice for selected patients suffering from CTEPH. The aim of this study was to evaluate the preoperative and postoperative circulating levels of ET-1 and TGF-β in subjects affected by CTEPH undergoing successful surgical treatment by PEA. Methods: The data from patients diagnosed with CTEPH who underwent PEA at the Foundation IRCCS Policlinico San Matteo Hospital (Pavia, Italy) were prospectively recorded in the Institutional database. Circulating ET-1 and TGF-β levels were assessed by an ELISA commercial kit before PEA, at 3 months and 1 year after PEA. The demographic data, preoperatory mean pulmonary arterial pressure (mPAP), cardiac output (CO), and pulmonary vascular resistance (PVR) were also recorded. Univariate and multivariate analyses were performed. Results: The analysis included 340 patients with complete ET-1 measurements and 206 patients with complete TGF-β measurements. ET-1 significantly decreased both at 3 months (p < 0.001) and at 1 year (p = 0.009) after PEA. On the other hand, preoperatory TGF-β levels did not significantly change after PEA. Furthermore, ET-1, but not TGF-β, was a good predictor for increased mPAP in multivariate analyses (p < 0.05). Conclusions: ET-1 but not TGF β was significantly modulated by PEA in subjects affected by CTEPH up to 1 year after surgery. The mechanisms leading to prolonged elevated circulating TGF-β levels and their clinical significance have to be further elucidated. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Macitentan for the treatment of inoperable chronic thromboembolic pulmonary hypertension (MERIT-1): results from the multicentre, phase 2, randomised, double-blind, placebo-controlled study.

Author

Ghofrani, Hossein-Ardeschir, Simonneau, Gérald, D'Armini, Andrea M, Fedullo, Peter, Howard, Luke S, Jaïs, Xavier, Jenkins, David P, Jing, Zhi-Cheng, Madani, Michael M, Martin, Nicolas, Mayer, Eckhard, Papadakis, Kelly, Richard, Dominik, and Kim, Nick H

Subjects
PULMONARY hypertension, PHOSPHODIESTERASE inhibitors, PULMONARY arterial hypertension, THROMBOEMBOLISM, HOSPITAL patients
Abstract

Macitentan is beneficial for long-term treatment of pulmonary arterial hypertension. The microvasculopathy of chronic thromboembolic pulmonary hypertension (CTEPH) and pulmonary arterial hypertension are similar. The phase 2, double-blind, randomised, placebo-controlled MERIT-1 trial assessed macitentan in 80 patients with CTEPH adjudicated as inoperable. Patients identified as WHO functional class II–IV with a pulmonary vascular resistance (PVR) of at least 400 dyn·s/cm5 and a walk distance of 150–450 m in 6 min were randomly assigned (1:1), via an interactive voice/web response system, to receive oral macitentan (10 mg once a day) or placebo. Treatment with phosphodiesterase type-5 inhibitors and oral or inhaled prostanoids was permitted for WHO functional class III/IV patients. The primary endpoint was resting PVR at week 16, expressed as percentage of PVR measured at baseline. Analyses were done in all patients who were randomly assigned to treatment; safety analyses were done in all patients who received at least one dose of the study drug. This study is registered with ClinicalTrials.gov , number NCT02021292. Between April 3, 2014, and March 17, 2016, we screened 186 patients for eligibility at 48 hospitals across 20 countries. Of these, 80 patients in 36 hospitals were randomly assigned to treatment (40 patients to macitentan, 40 patients to placebo). At week 16, geometric mean PVR decreased to 71·5% of baseline in the macitentan group and to 87·6% in the placebo group (geometric means ratio 0·81, 95% CI 0·70–0·95, p=0·0098). The most common adverse events in the macitentan group were peripheral oedema (9 [23%] of 40 patients) and decreased haemoglobin (6 [15%]). In MERIT-1, macitentan significantly improved PVR in patients with inoperable CTEPH and was well tolerated. Actelion Pharmaceuticals Ltd. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Heart transplantation in patients with eosinophilic granulomatosis with polyangiitis (Churg–Strauss syndrome)

Author

Groh, Matthieu, Masciocco, Gabriella, Kirchner, Elizabeth, Kristen, Arnt, Pellegrini, Carlo, Varnous, Shaïda, Bortman, Guillermo, Rosenberg, Mark, Brucato, Antonio, Waterworth, Paul, Bonacina, Edgardo, Facchetti, Fabio, Calabrese, Leonard, Gregorini, Gina, Scali, Juan Jose, Starling, Randall, Frigerio, Maria, D’Armini, Andrea Maria, and Guillevin, Loïc

Published
2014
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26. The Pathologic Basis of Recovery

Author

Narula, Nupoor, Agozzino, Manuela, Gazzoli, Fabrizio, Concardi, Monica, Pagani, Francesco, Favalli, Valentina, Kodama, Takahide, Mazzola, Alessandro, D’Armini, Andrea M., and Arbustini, Eloisa

Published
2014
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40. Chronic thromboembolic pulmonary hypertension risk score evaluation and validation (CTEPH SOLUTION): proposal of a study protocol aimed to realize a validated risk score for early diagnosis.

Author

MIOTTI, Cristiano, D’ARMINI, Andrea M., SCARDOVI, Beatrice, GHIO, Stefano, SINAGRA, Gianfranco, SERRA, Walter, ROMANIELLO, Antonella, GALGANO, Giuseppe, RONCON, Loris, D’ALTO, Michele, GIANNAZZO, Daniela, VITULO, Patrizio, BONGARZONI, Amedeo, RUZZOLINI, Matteo, ALBERA, Carlo, CASU, Gavino, MARRA, Martina PERAZZOLO, PIERDOMENICO, Sante D., LUONGO, Federico, and MANZI, Giovanna

Published
2022
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45. When you hear hoofbeats, think zebras – pulmonary veno‐occlusive disease: A case report.

Author

Scelsi, Laura, Lanzillo, Giuseppe, Arbustini, Eloisa, D'Armini, Andrea, Greco, Alessandra, Meloni, Federica, Turco, Annalisa, Valentini, Adele, Oltrona Visconti, Luigi, and Ghio, Stefano

Subjects
HEPATIC veno-occlusive disease, LUNG diseases, CONNECTIVE tissue diseases, PULMONARY hypertension, ZEBRAS, GENETIC variation
Abstract

Pulmonary veno‐occlusive disease (PVOD) is a rare disease. It may be idiopathic or associated, in particular, with connective tissue disease, or it may develop after radiation exposure; in heritable forms of PVOD, the inheritance is autosomal recessive due to the presence of homozygous or compound heterozygous pathogenic variants in the EIF2AK4 gene. We describe the case of a young man whose PVOD was initially misdiagnosed as chronic thromboembolic pulmonary hypertension despite worsening after riociguat, nonspecific computed tomography pulmonary angiogram findings, and parental consanguinity could suggest an autosomal recessive disease. The correct diagnosis and the correct treatment are crucial given the high mortality rate of this disease. [ABSTRACT FROM AUTHOR]

Published
2022
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48. Long-term Outcome after Pulmonary Endarterectomy

Author

Corsico, Angelo G., DʼArmini, Andrea M., Cerveri, Isa, Klersy, Catherine, Ansaldo, Elena, Niniano, Rosanna, Gatto, Elena, Monterosso, Cristian, Morsolini, Marco, Nicolardi, Salvatore, Tramontin, Corrado, Pozzi, Ernesto, and Viganò, Mario

Published
2008
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