Genetic Factors Associated With Pulmonary Vascular Disease

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De BrasiSantobono-Pausilipon Children’s Hospital. University of Campania “Luigi Vanvitelli” and Monaldi Hospital. University “Federico II”. Italy ChildrenChildren 2024; 11: DOI: 10.3390/children11111342 AbstractRASopathies are a group of genetic syndromes caused by […]

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up Read More »

Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease

Qianying Li, Lidan Cui, Jun Su, Yuelin ShenChildren’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital and Zhengzhou Children’s Hospital. Beijing Children’s Hospital and Capital Medical University. China Frontiers in PharmacologyFront Pharmacol 2025; DOI: 10.3389/fphar.2024.1510969 AbstractMultisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the ACTA2 gene, resulting in variable clinical manifestation

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Conservative Pulmonary Arteriovenous Malformation Screening in Children: Re-Evaluation of Safety

Fleur ten Berg, Josefien Hessels, Anna Hosman, Sanne Boerman, Marco C. Post, Walter A. F. Balemans, Hans-Jurgen MagerSt. Antonius Hospital. University Medical Centre Utrecht. Netherlands Pediatric PulmonologyPediatr Pulmonol 2025; 60: DOI: 10.1002/ppul.27476 AbstractIntroduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In

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Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges

Sri Meghana Kankipati, Surbhi Dumra, Swati Thareja, Lyluma Ishfaq, Mah N. Zargar, Arghadip Das, Sreya Kongala, Salma YounasAndhra Medical College. Employees’ State Insurance Corporation (ESIC) Medical College and Hospital. The Hans Foundation. Central Michigan University College of Medicine. Fatima Jinnah Medical University. Nilratan Sircar Medical College and Hospital. Osmania Medical College. Punjab University College of

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Survival and Risk Factor for Mortality of Infants with Trisomy-21 and Pulmonary Hypertension: A Population-Based Study from a Middle-Income Country

Mohd Nizam Mat Bah, Norazah Zahari, Noor Adibah Abdullah, Mohd Hanafi Sapian, EmieliyuzaYusnita AliasMinistry of Health Malaysia and Hospital Sultanah Aminah.  University of Malaya.Malaysia Pediatric CardiologyPediatr Cardiol 2024; DOI: 10.1007/s00246-024-03732-1 AbstractLimited studies are available on the outcome of infants with trisomy-21 and pulmonary hypertension (PHT) in lower- and middle-income countries. This population-based cohort study aims to

Survival and Risk Factor for Mortality of Infants with Trisomy-21 and Pulmonary Hypertension: A Population-Based Study from a Middle-Income Country Read More »

Bioinformatic Analysis and Molecular Docking Identify Isorhamnetin Is a Candidate Compound in the Treatment of Pulmonary Artery Hypertension

Chen Shao, Wei Xia, Yang LiuSecond People’s Hospital of Lianyungang. Qilu Medical University. China Anatolgy Journal of CardiologyAnatol J Cardiol 2024;DOI: 10.14744/AnatolJCardiol.2024.4723 AbstractBackground: The current study aims to identify the key pathways and potential therapeutic targets for pulmonary arterial hypertension (PAH) and to further evaluate the anti-PAH effects of isorhamnetin.Methods: The dataset of gene expression profiling for PAH

Bioinformatic Analysis and Molecular Docking Identify Isorhamnetin Is a Candidate Compound in the Treatment of Pulmonary Artery Hypertension Read More »

SOX17 – Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome

Mary P. Mullen, D. Dunbar Ivy, Nidhy P. Varghese, Abbey J. Winant, Nahir Cortes-Santiago, Sara O. Vargas, Diego Porres, Nicola Maschietto, Paul J. Critser, Russel Hirsch, Catherine M. Avitabile, Rachel K. Hopper, Benkamin S. Frank, Ryan D. Coleman, Pankaj B. Agrawal, Jill A. Madden, Amy E. Roberts, Shane L. Collins, J. Usha Raj, Eric D.

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Pulmonary arteriovenous malformation in children

Audrey Y. L. Lim, Felix RatjenHospital for Sick Children and University of Toronto.Canada Pediatric PulmonologyPediatr Pulmonol 2024; DOI: 10.1002/ppul.27354 AbstractPulmonary arteriovenous malformations (PAVMs) are rare abnormalities observed mainly in children with hereditary haemorrhagic telangiectasia (HHT). A majority of patients are asymptomatic at the time of detection. However, complications such as hypoxemia, stroke, cerebral abscess and massive

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CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia

Sajeth Dinakaran, Sima Qutaina, Haitian Zhao, Yuefeng Tang, Zhimin Wang, Santiago Ruiz, Aya Nomura-Kitabayashi, Christine N. Metz, Helen M. Arthur, Stryder M. Meadows, Lionel Blanc, Marie E. Faughnan, Philippe MarambaudFeinstein Institutes for Medical Research and Northwell Health. Donald and Barbara Zucker School of Medicine at Hofstra/Northwell. Institut Pasteur de Montevideo. Newcastle University. Tulane University. Cohen

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Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia

Lauren A. Beslow, Helen Kim, Steven W. Hetts, Felix Ratjen, Marianne S. Clancy, James R. Gossage, Marie E. FaughnanChildren’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania. University of California San Francisco. Hospital for Sick Children and University of Toronto. Cure HHT Foundation. Augusta University. St. Michael’s Hospital.United States and

Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia Read More »

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