Genetic Factors Associated With Pulmonary Vascular Disease

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki AkagawaTokyo Women’s Medical University and Adachi Medical Center. University of Toronto. Tokyo Medical and Dental University. University of Malaya. Hokkaido University Hospital. Eberhard […]

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A multimodal approach identifies lactate as a central feature of right ventricular failure that is detectable in human plasma

Anna Hemnes, Niki Fortune, Katie Simon, Irina A. Trenary, Sheila Shay, Eric Austin, Jamey D. Young, Evan Britain, James West, Megha TalatiVanderbilt University Medical Center and Vanderbilt University.United States Frontiers in MedicineFront Med 2024; DOI: 10.3389/fmed.2024.1387195 AbstractBackground: In PAH metabolic abnormalities in multiple pathways are well-recognized features of right ventricular dysfunction, however, prior work has focused mainly

A multimodal approach identifies lactate as a central feature of right ventricular failure that is detectable in human plasma Read More »

GCN2 kinase activation mediates pulmonary vascular remodeling and pulmonary arterial hypertension

Maggie M. Zhu, Jingbo Dai, Zhiyu Dai, Yi Peng, You-Yang ZhaoNorthwestern University Feinberg School of Medicine.United States Journal of Clinical Investigation InsightJCI Insight 2024; DOI: 10.1172/jci.insight.177926 AbstractPulmonary arterial hypertension (PAH) is characterized by progressive increase of pulmonary vascular resistance and remodeling that result in right heart failure. Recessive mutations of EIF2AK4 gene (encoding GCN2, General control

GCN2 kinase activation mediates pulmonary vascular remodeling and pulmonary arterial hypertension Read More »

Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection

Swathi Shenoy, Vijaya Kumar Deekshit, Swathi Sunil Rao, Prathibha Shankar Ashwini, Rathika Damodara ShenoyNITTE University Center for Science Education and Research. Doctor’s Hospital. American University of Antigua College of Medicine.India, Antigua and Barbuda Journal of Tropical PediatricsJ Trop Pediatr 2024; DOI: 10.1093/tropej/fmae030 AbstractMaternal thiamine deficiency is prevalent in low- and middle-income countries. Thiamine-responsive pulmonary hypertension (TRPHTN)

Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection Read More »

G6pdN126D Variant Increases the Risk of Developing VEGFR (Vascular Endothelial Growth Factor Receptor) Blocker-Induced Pulmonary Vascular Disease

Christina Signoretti, Shun Matsumura, Samuel Fatehi, Melinee D’Silva, Rajamma Mathew, Francesca Cendali, Angelo D’Alessandro, S. M. Shafiqul Alam, Victor Garcia, Joseph M. Miano, Sachin A. GupteNew York Medical College. University of Colorado Anschutz Medical Campus. Medical College of Georgia at Augusta University. United States Journal of the American Medical AssociationJ Am Heart Assoc 2024; DOI: 10.1161/JAHA.123.035174 AbstractBackground: G6PD (glucose-6-phosphate-dehydrogenase) is a key enzyme in the glycolytic pathway and has been implicated in the pathogenesis of cancer

G6pdN126D Variant Increases the Risk of Developing VEGFR (Vascular Endothelial Growth Factor Receptor) Blocker-Induced Pulmonary Vascular Disease Read More »

Inhibition of DLL4/Notch Signaling Pathway Promotes M2 Polarization and Cell Proliferation in Pulmonary Arterial Hypertension

Guangxing Tan, Chenxia Juan, Yan Mao, Gang Xue, Zhuyuan FangJiangsu Province Hospital of Chinese Medicine, Wuxi Hospital of Traditional Chinese Medicine and Affiliated Hospital of Nanjing University of Chinese Medicine. Yangzhou Hospital of Traditional Chinese Medicine. China American Chemical Society OmegaACS Omega 2024; 9: 37923-37933DOI: 10.1021/acsomega.4c04307 AbstractIn this study, we conducted a comprehensive analysis to identify

Inhibition of DLL4/Notch Signaling Pathway Promotes M2 Polarization and Cell Proliferation in Pulmonary Arterial Hypertension Read More »

Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association

Jennifer K. Peterson, Shanelle Clarke, Bruce D. Gelb, Nadine A. Kasparian, Vanna Kazazian, Karyn Pieciak, Nancy A. Pike, Shaun P. Setty, Melissa K. Uveges, Nancy A. Rudd, the American Heart Association Pediatric Cardiovascular Nursing Committee of the Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Genomic and Precision Medicine; and Council on Cardiovascular Radiology and InterventionJohns Hopkins University School of Nursing. Children’s Hospital of Wisconsin. Children’s Healthcare Atlanta and Emory University.

Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association Read More »

Impact of Age and of the Patent Ductus Arteriosus on Pulmonary Hemodynamics in Children with Complete Atrioventricular Septal Defect

Lucas Oliveira Rocha, Nelson Itiro Miyague, Leo Agostinho Solarewicz, Miguel Morita Fernandez-SilvaHospital Infantil Pequeno Príncipe. Universidade Federal do Paraná.Brazil Pediatric CardiologyPediatr Cardiol 2024; DOI: 10.1007/s00246-024-03636-0 AbstractComplete atrioventricular septal defect (CAVSD) can lead to the development of pulmonary obstructive vascular disease due to high pulmonary blood flow and pressures. This study aimed to evaluate the changes in

Impact of Age and of the Patent Ductus Arteriosus on Pulmonary Hemodynamics in Children with Complete Atrioventricular Septal Defect Read More »

Genetics and precision genomics approaches to pulmonary hypertension

Eric D. Austin, Micheala A. Aldred, Mona Alotaibi, Stefan Gräf, William C. Nichols, Richard C. Trembath, Wendy K. ChungVanderbilt University Medical Center. Indiana University School of Medicine. University of California San Diego. University of Cambridge. Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine. King’s College London. Boston Children’s Hospital. United States

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Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension

Jason Hong, Lejla Medzikovic, Wasila Sun, Brenda Wong, Grégoire Ruffenach, Christopher J. Rhodes, Adam Brownstein, Lloyd L. Liang, Laila Aryan, Min Li, Arjun Vadgama, Zeyneb Kurt, Tae-Hwi Schwantes-An, Elizabeth A. Mickler, Stefan Gräf, Mélanie Eyries, Katie A. Lutz, Michael W. Pauciulo, Richard C. Trembath, Frédéric Perros, David Montani, Nicholas W. Morrell, Florent Soubrier, Martin R.

Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension Read More »

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