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The multisystem nature of isomerism: left isomerism complicated by Abernethy malformation and portopulmonary hypertension

Megan L. Ringle, Rohit Loomba, John C. Dykes, Danyal Khan, David Schidlow, Gil WernovskyLucile Packard Children’s Hospital and Stanford University School of Medicine. Advocate Children’s Hospital and Chicago Medical School. Nicklaus Children’s Hospital. Boston Children’s Hospital and Harvard Medical School. Children’s National Hospital.United States Cardiology in the YoungCardiol Young 2021; 31: 532-540DOI: 10.1017/S1047951121000809 AbstractIsomerism, also referred […]

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An Infant with High-Output Heart Failure and Pulmonary Hypertension Resulting from a Giant Cutaneous Hemangioma

Andrew A. Lawson, Wayne H. Franklin, Nicolas F. M. Porta, Alan Nugent, Amanda HauckAnn & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine. Loyola University Stritch School of Medicine.United States Pediatric CardiologyPediatr Cardiol 2024; DOI: 10.1007/s00246-024-03528-3 AbstractWe present the clinical course of an 8-month-old infant with a giant cutaneous hemangioma

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Defining the Typical Course of Persistent Pulmonary Hypertension of the Newborn (PPHN): when to think beyond reversible causes

Stephanie M. Tsoi, Martina Steurer, Hythem Nawaytou, Shannon Cheung, Roberta L. Keller, Jeffrey R. FinemanUniversity of California San Francisco. United States Journal of PediatricsJ Pediatr 2024; DOI: 10.1016/j.jpeds.2024.114131 AbstractObjectives: To describe the typical clinical course of reversible PPHN from perinatal etiologies and compare that with the clinical course of PPHN due to underlying fetal developmental etiologies.Study design: This

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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 »

High-Altitude Pulmonary Edema in Two Pediatric Patients with Pre-Existing Lung Disease

Ali Alsuheel Asseri, Marei Assiri, Norah Alshehri, Noha Saad Alyazidi, Ahmed Alasmari, Saud Q. Alshabab, Nada Abdullah AsiriKing Khalid University. Abha Maternity and Children Hospital. Saudi Arabia Pediatric ReportsPediatr Rep 2024; 16: 271-277DOI: 10.3390/pediatric16020023 AbstractBackground: The illnesses associated with changes in barometric pressure can be classified into three types: acute mountain sickness, high-altitude pulmonary edema (HAPE), and

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Systemic-to-pulmonary collateral flow associations with antegrade pulmonary flow in single ventricle patients: insights from cardiac magnetic resonance imaging

Anna Yanovskiy, Laura Martelius, Nicolina Nyman, Teemu Vepsäläinen, Ilkka Mattila, Otto Rahkonen, Tiina OjalaHelsinki University Hospital, Children’s Hospital and University of Helsinki.Finland Frontiers in Cardiovascular MedicineFront Cardiovasc Med 2024; 11: DOI: 10.3389/fcvm.2024.1304087 AbstractPurpose: In the palliated single ventricle anomalies, a considerable amount of the aortic flow may be absorbed by the systemic-pulmonary collateral flow (SPCF), which can

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Improvement in Echocardiographic and Diagnostic Biomarkers after Systemic Glucocorticoid Therapy in Infants with Pulmonary Hypertension

Brian S. Hernandez, Rod M. Shinozaki, R. Mark Grady, Andrea Drussa, Erica Jamro-Comer, Jinli Wang, Manish AggarwalWashington University School of Medicine. Loma Linda University Children’s Hospital. United States Journal of PediatricsJ Pediatr 2024; DOI: 10.1016/j.jpeds.2024.114116 AbstractObjective: To assess the effect of treating pulmonary hypertension (PH) in infants less than 1 year of age with systemic glucocorticoids while

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Echocardiographic assessment of cardiac function abnormalities and related risk factors in Thai overweight and obese children

Darunwan Nimpum, Worawan JitthamNaresuan University.Thailand Annals of Pediatric CardiologyAnn Pediatr Cardiol 2023; 16: 413-421DOI: 10.4103/apc.apc_134_23 AbstractBackground: Childhood obesity has become a global concern, with its prevalence steadily increasing over the past decade. This condition negatively impacts the cardiovascular system, increasing the risk of morbidity and mortality in adulthood. This study aimed to identify cardiac function abnormalities and

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Objective Quantification of Bilateral Bubble Contrast Echocardiography Correlates with Systemic Oxygenation in Patients with Single Ventricle Circulation

Ashley Phimister, Chana Bushee, Monica Merbach, Sai Alekha Challa, Amy Y. Pan, Andrew D. SpearmanMedical College of Wisconsin and Children’s Wisconsin.United States Journal of Cardiovascular Development and DiseaseJ Cardiovasc Dev Dis 2024; 11: DOI: 10.3390/jcdd11030084 AbstractBubble contrast echocardiography is commonly used to diagnose pulmonary arteriovenous malformations (PAVMs) in single ventricle congenital heart disease (CHD), yet previous

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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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