Class 1. Heritable Pulmonary Hypertension

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

Ignacio Hernandez-Gonzalez, Jair Tenorio, Julian Palomino-Doza, Amaya Martinez Meñaca, Rafael Morales Ruiz, Mauro Lago-Docampo, Marı´a Valverde Gomez, Javier Gomez Roman, Ana Bele´n Enguita Valls, Carmen Perez-Olivares, Diana Valverde, Joan Gil Carbonell, Elvira Garrido-Lestache Rodrı´guez-Monte, Maria Jesus del Cerro, Pablo Lapunzina, Pilar Escribano-SubiasHospital Universitario Río Hortega. Hospital Universitario La Paz. Centro de Investigación Biomédica en Red […]

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Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

Jair Antonio Tenorio Castaño, Ignacio Hernández-Gonzalez, Natalia Gallego, Carmen Pérez-Olivares, Nuria Ochoa Parra, Pedro Arias, Elena Granda, Gonzalo Gómez Acebo, Mauro Lago-Docampo, Julian Palomino-Doza, Manuel López Meseguer, María Jesús del Cerro, Spanish PAH Consortium, Diana Valverde, Pablo Lapunzina, Pilar Escribano-SubíasHospital Universitario La Paz-UAM Paseo de La Castellana. Centro de Investigación Biomédica en Red de Enfermedades

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Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Alejandro Cruz-Utrilla1, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro MarínHospital Universitario 12 de Octubre. Hospital Universitario La Paz. Instituto de Salud Carlos

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Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant

Wataru Takemori, Kenichiro Yamamura, Yoshitaka Tomita, Naoki Egami, Hazumu Nagata, Hiromitsu Shirouzu, Yuichi Ishikawa, Daisuke Nakajima, Akihiko Yoshizawa, Hiroshi Date, Shouichi OhgaKyushu University. Fukuoka Children’s Hospital. Kyoto University Graduate School of Medicine, Kyoto and Kyoto University Hospital.Japan Pediatric PulmonologyPediatr Pulmonol 2022; 57: 1366-1369DOI: 10.1002/ppul.25877 AbstractPulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive

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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children

Joshua Hodgson, Lidia Ruiz- Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak- Toydemir, Whitney Wooderchak-Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. UptonUniversity of Cambridge. Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras. University of Alcalá, Madrid. University of Utah. Sheffield Children’s Hospital. Leeds

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children Read More »

SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension

Rachel Walters, Eleni Vasilaki, Jurjan Aman, Chien-Nien Chen, Yukyee Wu, Olin D. Liang, Ali Ashek, Olivier Dubois, Lin Zhao, Farah Sabrin, Inês Cebola, Jorge Ferrer, Nicholas W. Morrell, James R. Klinger, Martin R. Wilkins, Lan Zhao, Christopher J. RhodesHammersmith Hospital and Imperial College. Amsterdam University Medical Center. Rhode Island Hospital and Warren Alpert Medical School

SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension Read More »

Differential biventricular adaption to pulmonary vascular disease in patients with idiopathic/heritable and congenital heart disease: a prospective cardiac magnetic resonance and invasive study

Zhuoyuan Xu, Ruiyu Dou, Zhen Zhou, Hongsheng Zhang, Chen Zhang, Qiangqiang Li, Lei Xu, Hong GuBeijing Anzhen Hospital and Capital Medical University. China European Heart Journal Cardiovascular ImagingEur Heart J Cardiovasc Imag 2023; DOI: 10.1093/ehjci/jead106 AbstractAims: Despite shared pathophysiological mechanisms, patients with idiopathic/heritable pulmonary arterial hypertension (IPAH/HPAH) have a poorer prognosis than those with PAH after congenital

Differential biventricular adaption to pulmonary vascular disease in patients with idiopathic/heritable and congenital heart disease: a prospective cardiac magnetic resonance and invasive study Read More »

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience

Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D. Coleman, Dolores H. Lopez-Terrada, Daniel J. Penny, Yuxin Fan, Nidhy P. VargheseBaylor College of Medicine, Texas Children’s Hospital. United States Frontiers in PediatricsFron Pediat 2023; 11: DOI: 10.3389/fped.2023.1050706 AbstractIntroduction: Hereditary pulmonary arterial hypertension (HPAH) is a rare yet serious type of pulmonary arterial hypertension (PAH). The burden

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Case Report: Selexipag in pediatric pulmonary hypertension: Initiation, transition, and titration

Jenna M. Faircloth, Neelam D. Bhatt, Corey A. Chartan, Ryan D. Coleman, Natalie Villafranco, Fadel E. Ruiz, Raysa Morales-Demori, Elise Whalen, Erin Ely, Rozmeen Fombin, Nidhy P. VargheseTexas Children’s Hospital and Baylor College of Medicine.United States Frontiers in PediatricsFront Pediatr 2023; 11: DOI: 10.3389/fped.2023.1050508 AbstractSelexipag, a selective prostacyclin receptor agonist, is approved for treating pulmonary arterial

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Safety of chronic high-dose calcium channel blockers exposure in children with pulmonary arterial hypertension

Yan Wu, Fu-Hua Peng, Xin Gao, Xin-Xin Yan, FengWen Zhang, Jiang-Shan Tan, Song Hu, Lu HuaFuwai Hospital and Chinese Academy of Medical Sciences and Peking Union Medical College.China Frontiers in Cardiovascular MedicineFront Cardiovasc Med 2022; DOI: 10.3389/fcvm.2022.918735 AbstractBackground: Chronic calcium channel blockers (CCBs) are indicated in children with idiopathic/heritable pulmonary arterial hypertension (IPAH/HPAH) and positive response to

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