Genetic Factors Associated With Pulmonary Vascular Disease

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

Sietse M. Aukema, Gerdien A. ten Brinke, Wim Timens, Yvonne J. Vos, Ryan E. Accord, Karianne E. Kraft, Michiel J. Santing, Leonard P. Morssink, Esther Streefland, Cleo C. van Diemen, Elianne JLE Vrijlandt, Christian V. Hulzebos, Wilhelmina S. Kerstjens-FrederikseUniversity of Groningen, University Medical Center Groningen and Beatrix Children’s Hospital. Medical Center Leeuwarden. Netherlands American Journal […]

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis Read More »

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation

Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Martina Caiazza, Michelina Sibilio, Daniela Magri, Angela Carla Borrelli, Barbara D’Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello, Giuseppe LimongelliUniversity of Campania “Luigi Vanvitelli” and Monaldi Hospital. University College of London and St. Bartholomew’s Hospital.Italy and United Kingdom GenesGenes

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation Read More »

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Kaitlin J. Stanley, Kelsey J. Kalbfleisch, Olivia M. Moran, Rajiv R. Chaturvedi, Maian Roifman, Xin Chen, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles-Reid, Lynne E. Nield, Miriam S. Reuter, Marci L. B. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David

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Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country

Mohd Nizam Mat Bah, Mohd Hanafi Sapian, Mohd Hazman Mohd Anuar, Emieliyuza Yusnita AliasHospital Sultanah Aminah.Malaysia Annals of Pediatric CardiologyAnn Pediatr Cardiol 2023; 16: 322-330DOI: 10.4103/apc.apc_130_23 AbstractBackground and aims: Limited data on the survival and outcomes of ventricular septal defect (VSD) in middle-income countries are available. Hence, this study aims to determine the survival and factors associated

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Effect of Estrogen Receptor Alpha on Cardiopulmonary Adaptation to Chronic Developmental Hypoxia in a Rat Model

Nicholas T. Severyn, Patricia Esparza, Huanling Gao, Elizabeth A. Mickler, Marjorie E. Albrecht, Amanda Fisher, Bakhtiyor Yakubov, Todd G. Cook, James E. Slaven, Avram D. Walts, Robert S. Tepper, Tim LahmUniversity of Kentucky. Indiana University – Purdue University Indianapolis. University of Colorado. National Jewish Health.United States American Journal of Physiology Lung Cellular and Respiratory PhysiologyAm

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Dynamically stiffening biomaterials reveal age- and sex-specific differences in pulmonary arterial adventitial fibroblast activation

Mikala C. Mueller, Yanmei Du, Lori A. Walker, Chelsea M. MaginUniversity of Colorado, Anschutz Medical Campus.United States Matrix Biology PlusMatrix Biol Plus 2024; DOI: 10.1016/j.mbplus.2024.100145 AbstractRespiratory diseases like pulmonary arterial hypertension (PAH) frequently exhibit sexual dimorphism. Female PAH patients are more susceptible to the disease but have increased survival rates. This phenomenon is known as the

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Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension

Haiyang Tang, Akash Gupta, Seth A. Morrisroe, Changlei Bao, Tae-Hwi Schwantes-An, Geetanjali Gupta, Shuxin Liang, Yanan Sun, Aiai Chu, Ang Luo, Venkateswaran Ramamoorthi Elangovan, Shreya Sangam, Yinan Shi, Samisubbu R. Naidu, Jia-Rong Jheng, Sultan Ciftci-Yilmaz, Noel A. Warfel, Louise Hecker, Sumegha Mitra, Anna W. Coleman, Katie A. Lutz, Michael W. Pauciulo, Yen-Chun Lai, Ali Javaheri,

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Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology

Heidi Ostler, Carolyn Fall, Howaida El‐Said, Henri Justino, Shylah Haldeman, Jeanne Carroll, Rohit RaoRady Children’s Hospital and University of California San Diego California.United States Pulmonary CirculationPulm Circ 2024; 14:DOI: 10.1002/pul2.12366 AbstractHeritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic

Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology Read More »

Case report: Blotchy skin in a puffy neonate: is there a new association?

Chacko J. Joseph, Arijit Lodha, Soumya R. Thomas, Essa Al Awad, Nicola A. M. Wright, Cora Constantinescu, Doan Le, Majeeda KamaluddeenUniversity of Calgary Cumming School of Medicine. University of Alberta. Canada Frontiers in PediatricsFront Pediatr 2023; 11:DOI: 10.3389/fped.2023.1247343 AbstractIntroduction: Purpura fulminans in the neonatal population is a rare but potentially life-threatening condition complicated by thrombosis, resultant vital

Case report: Blotchy skin in a puffy neonate: is there a new association? Read More »

Chylothorax related to acute SARS-CoV-2 infection in a patient with Noonan syndrome with prior uncomplicated cardiac surgeries

Lubaina Ehsan, Jessica A. Thoe, John J. Parent, Joseph D. FakhouryWestern Michigan University Homer Stryker, M.D. School of Medicine and Bronson Children’s Hospital. Indiana University School of Medicine.United States Cardiology in the YoungCardiol Young 2024; 34: 448-451DOI: 10.1017/S1047951123004171 AbstractSARS-CoV-2 is a novel coronavirus that has rarely been associated with chylothorax. Patients with Noonan syndrome are at

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