Genetic Factors Associated With Pulmonary Vascular Disease

Post-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair

Marie Emeline Pierre Louis, Adnan Bhutta, Adrian Holloway, Peter GaskinHouston Healthcare. University of Maryland School of Medicine. United States Cardiology in the YoungCardiol Young 2022; 32: 398-404DOI: 10.1017/S1047951121002201 AbstractComplete atrioventricular canal defect is a CHD associated with intra-cardiac shunting of blood, which can lead to irreversible changes in pulmonary vascular resistance and pulmonary artery hypertension if […]

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Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response

Lois J. Starr, Mark E. Lindsay, Deborah Perry, Gregory Gheewalla, Paul A. VanderLaan, Adnan Majid, Charlie Strange, George-Claudiu Costea, Adrian Lungu, Angela E. LinUniversity of Nebraska Medical Center. Harvard Medical School and MassGeneral Hospital for Children. Massachusetts General Hospital. Methodist Hospital. Tufts University School of Medicine. Beth Israel Deaconess Medical Center. Medical University of South

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response Read More »

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension

Xinyu Zhang, Chen Zhang, Qiangqiang, Li, Hong GuBeijing Anzhen Hospital and Capital Medical University.China Pulmonary CirculationPulm Circ 2022; 12: DOI: 10.1002/pul2.12076 AbstractThe relationship between clinical prognosis and transforming growth factor-β (TGF-β) receptor mutations in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) remains unclear. We retrospectively studied the clinical characteristics and outcomes of pediatric patients

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Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension

Zhuoyuan Xu, Hongsheng Zhang, Chen Zhang, Qiangqiang Li, Hong GuBeijing Anzhen Hospital and Capital Medical University, No. 2.China Journal of Clinical MedicineJ Clin Med 2022; 11: DOI: 10.3390/jcm11247331 AbstractBackground: Paediatric-onset idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) is partially linked to genetic factors that may also affect treatment response and outcome. The relation between clinical characteristics and pathogenicity of

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COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study

Catherine E. Simpson, Megan Griffiths, Jun Yang, Melanie K. Nies, Dhananjay Vaidya, Stephanie Brandal, Lisa J. Martin, Michael W. Pauciulo, Katie A. Lutz, Anna W. Coleman, Eric D. Austin, D. Dunbar Ivy, William C. Nichols, Allen D. Everett, Paul M. Hassoun, Rachel L. DamicoJohns Hopkins University. Cincinnati Children’s Hospital Medical Center and University of Cincinnati

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Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study

Maurike Dorothea de Groot‑van der Mooren, Lukas Augustinus, Johannes Rammeloo. Roos van der Plas, Peter de Winter, Hester van Wieringen, Anne‑Marie van Wermeskerken, Michel Emile Weijerman, Anton Hubertus van KaamAmsterdam UMC Location and University of Amsterdam. Amsterdam Public Health Research Institute. Amsterdam Reproduction & Development Research Institute. St. Antonius Ziekenhuis. Flevoziekenhuis, Hospitaalweg. Spaarne Gasthuis. KU Leuven. Alrijne Hospital. Netherlands European Journal of PediatricsEur J Pediatr 2023; 182: 319-328DOI: 10.1007/s00431-022-04686-3 AbstractThe total uptake of prenatal aneuploidy screening for Down syndrome

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High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Esra Yıldız Bölükbaşi, Tomasz Gambin, Justyna A. Karolak, Nicholas Willard, Przemyslaw Szafranski, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł StankiewiczBaylor College of Medicine. Poznan University of Medical Sciences. Warsaw University of Technology. University of Colorado Anschutz Medical Campus.United States and Poland Molecular Genetics and Genomic MedicineMol Genet Genomic Med 2022; 10: DOI: 10.1002/mgg3.2062 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV Read More »

Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension

Fan Yang, Dan Wang, Xuehua Zhang, Haoqin Fan, Yu Zheng, Zhenghui Xiao, Zhi Chen, Yunbin Xiao, Qiming LiuSecond Xiangya Hospital and Central South University. Hunan Children’s Hospital. Fujian Children’s Hospital and Fujian Medical University.China Frontiers in Cardiovascular MedicineFront Cardiovasc Med 2023; DOI: 10.3389/fcvm.2022.1058569 AbstractHyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome (HUPRA syndrome)

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Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?

Gabriela de Carvalho Nunes, Karl Grenier, Chelsea Maedler Kron, Thomas Kitzler, Janine El Helou, David S. Rosenblatt, Francois OlivierMcGill University Health Centre. Jewish General Hospital.Canada Neuromuscular DisordersNeuromuscul Disord 2022; 32: 512-515DOI: 10.1016/j.nmd.2022.04.010 AbstractChylothorax has been reported in rare cases of X-linked myotubular myopathy, but the pathophysiology of this association is not fully understood. We report a

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Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant

Stephanie M. Tsoi, Kirk Jones, Elizabeth Colglazier, Claire Parker, Hythem Nawaytou, David Teitel, Jeffrey R. Fineman, Roberta L. KellerUniversity of California San Francisco.United States Pulmonary CirculationPul Circ 2022; 12: DOI: 10.1002/pul2.12108 AbstractWe present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of

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