Genetic Factors Associated With Pulmonary Vascular Disease

Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome

Taizo A. Nakano, Alexander W. Rankin, Aparna Annam, Ann M. Kulungowski, Leslie M. McCallen, Lauren R. Hill, Kathryn C. ChatfieldUniversity of Colorado Anschutz Medical Campus and Children’s Hospital Colorado. United States Journal of PediatricsJ Pediatr 2022; 248: 81-88DOI: 10.1016/j.jpeds.2022.05.030 AbstractObjective: To evaluate the effect of the RAS-MAPK pathway inhibitor trametinib on medically refractory chylous effusions in 3 […]

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Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome

Erika K. S. M. Leenders, Lotte E. R. Kleimeier, Lauren C. Weeke, Catelijne H. Coppens, Willemijn M. Klein, Jos M.T. DraaismaRadboud University Medical Center. Amalia Children’s Hospital.Netherlands Clinical Case ReportsClin Case Rep 2024; 12: DOI: 10.1002/ccr3.9164 AbstractWe describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly.

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A Rare Case of Familial Methemoglobinemia with Congenital Heart Disease

Jhasaketan Nayak, Karthik Kumar, Sashi Kant Singh, Gaurav Dhingra, Uttam Kumar NathAll India Institute of Medical Sciences.India Oman Medical JournalOman Med J 2024; 39:DOI: 10.5001/omj.2024.16 AbstractMethemoglobinemia is a rare dyshemoglobin disorder which can either be congenital or acquired. Dyshemoglobin disorders can be asymptomatic or symptomatic. We narrate the case of a 12-year-old girl who presented with

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Pulmonary Hypertension Induced by Right Pulmonary Artery Occlusion: Hemodynamic Consequences of Bmpr2 Mutation

Alban Todesco, Julien Grynblat, Kouamé Kan Firmin Akoumia, Damien Bonnet, Pedro Mendes‐Ferreira, Stéphane Morisset, Denis Chemla, Marilyne Levy, Mathilde Méot, Sophie‐Guiti Malekzadeh‐Milani, Birger Tielemans, Benoit Decante, Carine Vastel‐Amzallag, Paul Habert, Maria‐Rosa Ghigna, Marc Humbert, David Montani, David Boulate, Frédéric PerrosNorth Hospital Aix Marseille University, Assistance Publique-Hôpitaux de Marseille. INSERM UMR_S 999 Pulmonary Hypertension: Pathophysiology and Novel Therapies Le Plessis. Hôpital Necker-Enfants malades AP-HP Université de Paris Cité. Le Kremlin-Bicêtre Université Paris-Saclay. Faculty of Medicine of

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Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia

Guolun Wang, Bingqiang Wen, cMinzhe Guo, Enhong Li, Yufang Zhang, Jeffrey A. Whitsett, Vladimir V. KalinichenkoCincinnati Children’s Research Foundation and University of Cincinnati College of Medicine. University of Arizona, College of Medicine, Phoenix Children’s Research Institute and Phoenix Children’s Hospital.United States Nature CommunicationsNat Commun 2024; 15: DOI: 10.1038/s41467-024-49477-6 Abstract Mutations in the FOXF1 gene, a key

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Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle

Taylor E. Katt, Robert L. Spicer, Anji T. Yetman, Ali N. Ibrahimiye, James M. Hammel, Jeffrey A. RobinsonUniversity of Nebraska Medical Center and Children’s Hospital and Medical Center.United States Journal of the American College of Cardiology Case ReportsJACC Case Rep 2020; 2: 1716-1719DOI: 10.1016/j.jaccas.2020.05.098 AbstractWilliams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis

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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations

Silvia Souza da Costa, Veniaminn Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M. B. Carvalho, Carla Rosenberg, Ana Cristina Victorino KrepischiUniversity of São Paulo. Siberian Branch of the Russian Academy of Sciences. Uniscience do Brasil. Hospital de Clínicas de Porto Alegre. Pontifícia Universidade Catolica do Rio Grande Do Sul. Federal University

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations Read More »

Collagen 18A1/Endostatin Expression in the Progression of Right Ventricular Remodeling and Dysfunction in Pulmonary Arterial Hypertension

Anjira S. Ambade, Mario Naranjo, Tijana Tuhy, Rose Yu, Mery Marimoutou, Allen D. Everett, Larissa A. Shimoda, Stefean L. Zimmerman, Ilton M. Cubero Salazar, Catherine E. Simpson, Ryan J. Tedford, Steven Hsu, Paul M. Hassoun, Rachel L. DamicoJohns Hopkins University. Temple University. Johns Hopkins Community Physicians. Institute for In Vitro Sciences Inc. Medical University of

Collagen 18A1/Endostatin Expression in the Progression of Right Ventricular Remodeling and Dysfunction in Pulmonary Arterial Hypertension Read More »

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro MussaUniversity of Turin. Regina Margherita Children’s Hospital.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant Read More »

Phenotypic characterisation of SMAD4 variant carriers

Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-GirodFemme-Mère-Enfants Hospital and Hospices Civils de Lyon. Hôpital E. Herriot. Université Claude Bernard Lyon 1. France Journal of Medical GeneticsJ Med Genet 2024; DOI: 10.1136/jmg-2023-109632 AbstractBackground: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known

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