p.99 抽出テキスト

144. van de Bovenkamp AA, Wijkstra N, Oosterveer FPT, Vonk Noordegraaf A, Bogaard HJ, van Rossum AC, et al. The value of passive leg raise during right heart catheterization in diagnosing heart failure with preserved ejection fraction. Circ Heart Fail 2022;15:e008935. 145. D’Alto M, Dimopoulos K, Coghlan JG, Kovacs G, Rosenkranz S, Naeije R. Right heart catheterization for the diagnosis of pulmonary hypertension: controversies and practical issues. Heart Fail Clin 2018;14:467–477. 146. Rich S, Kaufmann E, Levy PS. The effect of high doses of calcium-channel blockers on survival in primary pulmonary hypertension. N Engl J Med 1992;327:76–81. 147. Barst RJ, McGoon M, Torbicki A, Sitbon O, Krowka MJ, Olschewski H, et al. Diagnosis and differential assessment of pulmonary arterial hypertension. J Am Coll Cardiol 2004;43:40S–47S. 148. Morrell NW, Aldred MA, Chung WK, Elliott CG, Nichols WC, Soubrier F, et al. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J 2019;53: 1801899. 149. Graf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun 2018;9:1416. 150. Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, et al. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med 2021;13:80. 151. Song J, Eichstaedt CA, Viales RR, Benjamin N, Harutyunova S, Fischer C, et al. Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool. Clin Sci (Lond) 2016;130:2043–2052. 152. International PPHC, Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA III, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 2000;26:81–84. 153. Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, et al. Loss-of-function ABCC8 mutations in pulmonary arterial hypertension. Circ Genom Precis Med 2018;11:e002087. 154. Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, et al. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med 2013;369: 351–361. 155. Nasim MT, Ogo T, Ahmed M, Randall R, Chowdhury HM, Snape KM, et al. Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. Hum Mutat 2011;32:1385–1389. 156. Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK, University of Washington Center for Mendelian Genomics. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A 2015;167A:1796–1806. 157. Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, et al. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet 2013;50:500–506. 158. Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet 2014;46:65–69. 159. Swietlik EM, Greene D, Zhu N, Megy K, Cogliano M, Rajaram S, et al. Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension. Circ Genom Precis Med 2020;14:e003155. 160. Chida A, Shintani M, Yagi H, Fujiwara M, Kojima Y, Sato H, et al. Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. Am J Cardiol 2012;110:586–593. 161. Hoeper MM, Pausch C, Grünig E, Klose H, Staehler G, Huscher D, et al. Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry. J Heart Lung Transpl 2020;39:1435–1444. 162. Badagliacca R, Poscia R, Pezzuto B, Papa S, Nona A, Mancone M, et al. Pulmonary arterial dilatation in pulmonary hypertension: prevalence and prognostic relevance. Cardiology 2012;121:76–82. 163. Santaniello A, Casella R, Vicenzi M, Rota I, Montanelli G, De Santis M, et al. Cardiopulmonary exercise testing in a combined screening approach to individuate pulmonary arterial hypertension in systemic sclerosis. Rheumatology 2020;59: 1581–1586. 164. Albrecht T, Blomley MJ, Cosgrove DO, Taylor-Robinson SD, Jayaram V, Eckersley R, et al. Non-invasive diagnosis of hepatic cirrhosis by transit-time analysis of an ultrasound contrast agent. Lancet 1999;353:1579–1583. 165. Cottin V, Le Pavec J, Prevot G, Mal H, Humbert M, Simonneau G, et al. Pulmonary hypertension in patients with combined pulmonary fibrosis and emphysema syndrome. Eur Respir J 2010;35:105–111. 166. Galiè N, Barbera JA, Frost AE, Ghofrani HA, Hoeper MM, McLaughlin VV, et al. Initial use of ambrisentan plus tadalafil in pulmonary arterial hypertension. N Engl J Med 2015;373:834–844. 167. Pulido T, Adzerikho I, Channick RN, Delcroix M, Galiè N, Ghofrani HA, et al. Macitentan and morbidity and mortality in pulmonary arterial hypertension. N Engl J Med 2013;369:809–818. 168. Sitbon O, Bosch J, Cottreel E, Csonka D, de Groote P, Hoeper MM, et al. Macitentan for the treatment of portopulmonary hypertension (PORTICO): a multicentre, randomised, double-blind, placebo-controlled, phase 4 trial. Lancet Respir Med 2019;7:594–604. 169. Armstrong I, Billings C, Kiely DG, Yorke J, Harries C, Clayton S, et al. The patient experience of pulmonary hypertension: a large cross-sectional study of UK patients. BMC Pulm Med 2019;19:67. 170. Strange G, Gabbay E, Kermeen F, Williams T, Carrington M, Stewart S, et al. Time from symptoms to definitive diagnosis of idiopathic pulmonary arterial hypertension: the delay study. Pulm Circ 2013;3:89–94. 171. Ivarsson B, Johansson A, Kjellstrom B. The odyssey from symptom to diagnosis of pulmonary hypertension from the patients and spouses perspective. J Prim Care Community Health 2021;12:21501327211029241. doi: 10.1177/ 21501327211029241 172. Kiely DG, Lawrie A, Humbert M. Screening strategies for pulmonary arterial hypertension. Eur Heart J Suppl 2019;21:K9–K20. 173. Coghlan JG, Denton CP, Grunig E, Bonderman D, Distler O, Khanna D, et al. Evidence-based detection of pulmonary arterial hypertension in systemic sclerosis: the DETECT study. Ann Rheum Dis 2014;73:1340–1349. 174. Weatherald J, Montani D, Jevnikar M, Jais X, Savale L, Humbert M. Screening for pulmonary arterial hypertension in systemic sclerosis. Eur Respir Rev 2019;28: 190023. 175. Krowka MJ, Fallon MB, Kawut SM, Fuhrmann V, Heimbach JK, Ramsay MA, et al. International Liver Transplant Society Practice Guidelines: diagnosis and management of hepatopulmonary syndrome and portopulmonary hypertension. Transplantation 2016;100:1440–1452. 176. Mancuso L, Scordato F, Pieri M, Valerio E, Mancuso A. Management of portopulmonary hypertension: new perspectives. World J Gastroenterol 2013;19: 8252–8257. 177. Sitbon O, Lascoux-Combe C, Delfraissy JF, Yeni PG, RaffiF, De Zuttere D, et al. Prevalence of HIV-related pulmonary arterial hypertension in the current antiretroviral therapy era. Am J Respir Crit Care Med 2008;177:108–113. 178. Ende-Verhaar YM, Cannegieter SC, Vonk Noordegraaf A, Delcroix M, Pruszczyk P, Mairuhu AT, et al. Incidence of chronic thromboembolic pulmonary hypertension after acute pulmonary embolism: a contemporary view of the published literature. Eur Respir J 2017;49:1601792. 179. Ende-Verhaar YM, Huisman MV, Klok FA. To screen or not to screen for chronic thromboembolic pulmonary hypertension after acute pulmonary embolism. Thromb Res 2017;151:1–7. 180. Kiely DG, Doyle O, Drage E, Jenner H, Salvatelli V, Daniels FA, et al. Utilising artificial intelligence to determine patients at risk of a rare disease: idiopathic pulmonary arterial hypertension. Pulm Circ 2019;9:2045894019890549. 181. Nathan SD, Behr J, Collard HR, Cottin V, Hoeper MM, Martinez FJ, et al. Riociguat for idiopathic interstitial pneumonia-associated pulmonary hypertension (RISE-IIP): a randomised, placebo-controlled phase 2b study. Lancet Respir Med 2019;7: 780–790. 182. Nagel C, Henn P, Ehlken N, D’Andrea A, Blank N, Bossone E, et al. Stress Doppler echocardiography for early detection of systemic sclerosis-associated pulmonary arterial hypertension. Arthritis Res Ther 2015;17:165. 183. Semalulu T, Rudski L, Huynh T, Langleben D, Wang M, Canadian Scleroderma Research Group, et al. An evidence-based strategy to screen for pulmonary arterial hypertension in systemic sclerosis. Semin Arthritis Rheum 2020;50:1421–1427. 184. Vandecasteele E, Drieghe B, Melsens K, Thevissen K, De Pauw M, Deschepper E, et al. Screening for pulmonary arterial hypertension in an unselected prospective systemic sclerosis cohort. Eur Respir J 2017;49:1602275. 185. Coghlan JG, Wolf M, Distler O, Denton CP, Doelberg M, Harutyunova S, et al. Incidence of pulmonary hypertension and determining factors in patients with systemic sclerosis. Eur Respir J 2018;51:1701197. 186. Hachulla E, Gressin V, Guillevin L, Carpentier P, Diot E, Sibilia J, et al. Early detection of pulmonary arterial hypertension in systemic sclerosis: a French nationwide prospective multicenter study. Arthritis Rheum 2005;52:3792–3800. 187. Humbert M, Yaici A, de Groote P, Montani D, Sitbon O, Launay D, et al. Screening for pulmonary arterial hypertension in patients with systemic sclerosis: clinical characteristics at diagnosis and long-term survival. Arthritis Rheum 2011;63:3522–3530. 188. Thakkar V, Stevens W, Prior D, Youssef P, Liew D, Gabbay E, et al. The inclusion of N-terminal pro-brain natriuretic peptide in a sensitive screening strategy for systemic sclerosis-related pulmonary arterial hypertension: a cohort study. Arthritis Res Ther 2013;15:R193. 189. Hao Y, Thakkar V, Stevens W, Morrisroe K, Prior D, Rabusa C, et al. A comparison of the predictive accuracy of three screening models for pulmonary arterial hypertension in systemic sclerosis. Arthritis Res Ther 2015;17:7. 190. Morrisroe K, Stevens W, Sahhar J, Rabusa C, Nikpour M, Proudman S, et al. Epidemiology and disease characteristics of systemic sclerosis-related pulmonary arterial hypertension: results from a real-life screening programme. Arthritis Res Ther 2017;19:42. Downloaded from academic.oup.com/eurheartj/article/43/38/3618/6673929 by guest on 07 October 2026