Genetic Factors Associated With Pulmonary Vascular Disease

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)

Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft-Dawson, Andrea Taylor, Laura Muiño Mosquera, Bert Callewaert, Aude Beyens, Alexandra Channing, Michael P. Dilorenzo, Justin Weigand, Benjamin Jacob, Eudice Fontenot, Shaine A. MorrisTexas Children’s Hospital and Baylor College of Medicine. University of Texas Health Science Center. A Twist of Fate. Ghent University Hospital and Ghent […]

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY) Read More »

Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome

R. Thomas Collins II, Verena Gravenhorst, Gilles Faury, Joanna Kwiatkowska, Christian E. H. Schmelzer, Heike Schneider, Anna Waldoch, Rainer PankauUniversity of Kentucky College of Medicine. University Medical Center and Georg-August-University Göttingen. Université Grenoble. Medical University of Gdańsk. Fraunhofer Institute for Microstructure of Materials and Systems. University Medical Center Schleswig-Holstein and Christian-Albrechts-University.United States, Germany, France and

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Decreased smooth muscle cells and fibrous thickening of the tunica media in peripheral pulmonary artery stenosis in Alagille syndrome

Yosuke Ogawa, Amane Yamamoto, Sho Yamazawa, Masako Ikemura, Yasutaka Hirata, Ryo InuzukaUniversity of Tokyo Hospital.Japan Cardiovascular PathologyCardiovasc Pathol 2025; DOI: 10.1016/j.carpath.2024.107677 AbstractAlagille syndrome is caused by mutations in genes involved in NOTCH signaling, specifically JAG1 and NOTCH2, and is associated with a high rate of peripheral pulmonary artery stenosis. In this study, we report the case

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Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations

Wanqing Zhao, Yanan Zhang, Yalei Pi, Yuqian Li, Huifeng ZhangSecond Hospital of Hebei Medical University. China Orphanet Journal of Rare DiseaseOrphanet J Rare Dis 2025; DOI: 10.1186/s13023-025-03907-w AbstractBackground: To investigate the clinical characteristics, treatment response, and prognosis of patients with methylmalonic acidemia (MMA) and homocysteinemia complicated by cardiovascular manifestations and to raise awareness regarding MMA and homocysteinemia.Methods: A

Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations Read More »

Factors Influencing Prolonged Hospital Stay in Surgically Treated Children and Adolescents with Left-to-Right Shunt Congenital Heart Disease: Evidence From a Hospital in Southern China

Liudan Huang, Yuhua Zhang, Shaobo JiangMeizhou People’s Hospital and Meizhou Academy of Medical Sciences.China Therapeutics and Clinical Risk ManagementTher Clin Risk Manag 2025; DOI: 10.2147/TCRM.S533273 AbstractBackground: Congenital heart disease(CHD) is a congenital malformation caused by abnormal development of the heart and large blood vessels, and left-to-right shunt CHD is a relatively common type. Surgical treatment has the

Factors Influencing Prolonged Hospital Stay in Surgically Treated Children and Adolescents with Left-to-Right Shunt Congenital Heart Disease: Evidence From a Hospital in Southern China Read More »

Life-saving stepwise management of pulmonary hypertension in an infant with Down syndrome presenting with a large patent ductus arteriosus and giant hepatic arteriovenous malformation

Emine Gulsah Torun, Nevin Özdemiroglu, Velihan Cayhan, Ibrahim EceAnkara Bilkent City Hospital. Gaziantep City Hospital. Turkey Cardiology in the Young Cardiol Young 2025; DOI: 10.1017/S1047951125101662 AbstractWe report a rare case of a 3-month-old male infant with Down syndrome, severe pulmonary arterial hypertension (a large patent ductus arteriosus, an atrial septal defect, and a giant hepatic arteriovenous

Life-saving stepwise management of pulmonary hypertension in an infant with Down syndrome presenting with a large patent ductus arteriosus and giant hepatic arteriovenous malformation Read More »

Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome

Hyoungjun Sim, Forrest Wilke, Emily Hamburger, Charlie J. Sang 3rd, Clara HildebrandtUniversity of North Carolina. United States American Journal of Medical Genetics Part C Seminars in GeneticsAm J Med Genet C Semin Med Genet 2025; DOI: 10.1002/ajmg.c.32150 AbstractMyhre syndrome is a rare connective tissue disorder characterized by skeletal, cardiopulmonary, dermatologic, neurocognitive changes, and a predisposition to

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Gestational age-based outcomes of neonates with Down syndrome in the neonatal intensive care unit (NICU): review of pediatric health information system (PHIS) database

Emily A. Messick, Stephen A. Hart, Julie Strominger, Sara Conroy, Carl H. Backes, Clifford L. CuaNationwide Children’s Hospital and Ohio State University.United States Journal of PerinatologyJ Perinatol 2025; DOI: 10.1038/s41372-025-02384-0 AbstractObjective: To examine differences in neonatal intensive care unit (NICU) outcomes in neonates with Down syndrome (DS) by gestational age (GA) using a large national database Study

Gestational age-based outcomes of neonates with Down syndrome in the neonatal intensive care unit (NICU): review of pediatric health information system (PHIS) database Read More »

Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders

Erika K. S. M. Leenders, Vera C. van den Brink, Lotte E. R. Kleimeier, Danielle T. J. Woutersen, Catelijne H. Coppens, Jeroen den Hertog, Willemijn M. Klein, Tuula Rinne, Sabine L. Vrancken, Saskia N. de Wildt, Jos M. T. Draaisma, Joris FuijkschotRadboud University Medical Center and Amalia Children’s Hospital. University Medical Center Utrecht. Leiden University.

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Inpatient outcomes among children with Down syndrome: a Kids’ Inpatient Database study

Po-Yang Tsou, Yu-Hsun Wang, Ignacio E. TapiaBoston Children’s Hospital and Harvard Medical School. Tufts Medical Center. University of Miami Health System.United States BioMedical Central PediatricsBMC Pediatr 2025; 25: DOI: 10.1186/s12887-025-05899-9 AbstractBackground: Children with Down Syndrome (DS) are more likely to have multi-system comorbidities leading to more frequent hospitalizations than the general population. We aim to evaluate whether

Inpatient outcomes among children with Down syndrome: a Kids’ Inpatient Database study Read More »

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