Class 1. Heritable Pulmonary Hypertension

Cardiac Magnetic Resonance Derived Left Ventricular Eccentricity Index and Right Ventricular Mass Measurements Predict Outcome in Children with Pulmonary Arterial Hypertension

Meindina G. Haarman, Iris Coenraad, Quint A. J. Hagdorn, Hans L. Hillege, Tineke P. Willems, Rolf M. F. Berger, Johannes M. DouwesBeatrix Children’s Hospital and University Medical Center Groningen. Netherlands ChildrenChildren 2023; 10DOI: 10.3390/children10040756 AbstractPulmonary arterial hypertension (PAH) is associated with increased right ventricular (RV) afterload, affecting RV remodeling and RV performance, a major determinant of […]

Cardiac Magnetic Resonance Derived Left Ventricular Eccentricity Index and Right Ventricular Mass Measurements Predict Outcome in Children with Pulmonary Arterial Hypertension Read More »

Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity

L. Chomette, E. Hupkens, M. Romitti, L. Dewachter, J. L.Vachiéry, S. Bailly, S. Costagliola, G. Smits, E. Tillet, Antoine BondueHôpital Erasme, Hôpital Universitaire de Bruxelles and Université Libre de Bruxelles. Laboratory BioSanté and Université Grenoble Alpes.Belgium and France American Journal of Medical GeneticsAm J Med Genet 2023; 191(8):2064-2073DOI: 10.1002/ajmg.a.63236 AbstractPulmonary arterial hypertension (PAH) is a rare

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The cascade screening in heritable forms of pulmonary arterial hypertension

Nidhy P. Varghese, Akhilesh A. Padhye, Pilar L. Magoulas, George B. Mallory, Fadel E. Ruiz, Sandeep SahayBaylor College of Medicine Texas Children’s Hospital Houston. Houston Methodist Hospital. Weill Cornell Medical College.United States Pulmonary CirculationPulm Circ 2023;DOI: 10.1002/pul2.12259 AbstractHeritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult

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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

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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 »