Precision Care for Pulmonary Vascular Disease

“Gentle” cardio-respiratory management in congenital diaphragmatic hernia: Time for a precision-medicine approach?

Anna Foth, David Tingay, Florian KipfmuellerUniversity Medical Center Mannheim and Heidelberg University. Murdoch Children’s Research Institute and University of Melbourne. Germany and Australia Seminars in Fetal and Neonatal MedicineSemin Fetal Neonatal Med 2025; DOI: 10.1016/j.siny.2025.101660 AbstractCongenital diaphragmatic hernia (CDH) remains one of the most challenging conditions to manage in neonatal intensive care, with outcomes determined by […]

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Pharmacology in Congenital Diaphragmatic Hernia: A Focus on Cardiovascular Management

Anie Lapointe, Florian Kipfmueller, Neil Patel, Gabriel AltitCHU Sainte-Justine. University Medical Center Mannheim and University of Heidelberg. Royal Hospital for Children. Montreal Children’s Hospital and McGill University Health Centre Research Institute.Canada, Germany and United Kingdom NeoreviewsNeoreviews 2025; 26: e660-e678DOI: 10.1542/neo.26-10-060 AbstractCongenital diaphragmatic hernia (CDH) presents a complex challenge in neonatal care, requiring tailored pharmacological strategies to

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Long-term outcome of CblC deficiency complicated with pulmonary hypertension

Si Ding, Yuxin Deng, Lili Hao, Wenjuan Qiu, Shengnan Wu, Yongxing Chen, Ting Chen, Xia Zhan, Lianshu Han, Xianting JiaoXinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine. Children’s Hospital Affiliated to Zhengzhou University and Henan Children’s Hospital. China Orphanet Journal od Rare DiseasesOrphanet J Rare Dis 2025; 20: DOI: 10.1186/s13023-025-03839-5

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Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series)

Lindsay M. Forbes, Natalie Bauer, AritraBhadra, Stefan Gräf, GustavoA.Heresi, Rachel K. Hopper, Harm J. Bogaard, Gaurav Choudhary, Kara N. Goss, Arun Jose, Yunhye Kim, Timothy Klouda, Tim Lahm, Allan Lawrie, Peter J. Leary, Jane A. Leopold, Suellen D. Oliveira, Christopher J. Rhodes, Duncan J. Stewart, Rebecca R. Vanderpool, Sasha Z. Prisco, Ruslan Rafikov, Ke Yuan,

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Factors influencing pulmonary arterial pressure in three related patients with Cantú syndrome: glyburide may provide precision care

Ronald W. Day, Benjamin F. CallUniversity of Utah and Primary Children’s Hospital. Portneuf Cardiology.United States Rare Disease and Orphan Drugs JournalRare Dis Orphan Drugs J 2023; DOI: 10.20517/rdodj.2023.12 AbstractA range of pulmonary arterial pressures was observed in three related patients with Cantú syndrome. The incident patient developed a moderately high pulmonary vascular resistance. Several factors

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Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency

Xiaoyu Liu, Huijie Xiao, Yong Yao, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Yanling Yang, Jie Ding, Fang WangPeking University First Hospital.China Frontiers in PediatricsFront Pediatr 2023; DOI: 10.3389/fped.2022.1057594 AbstractObjective: CblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small

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Acute vasodilator testing: An opportunity to advance the precision care of pulmonary hypertension

Meghan M. Cirulis, Lynda O. Jorgensen, Ronald W. DayUniversity of Utah and Primary Children’s Hospital.United States Respiratory Medicine Case ReportsRespir Med Case Rep 2019; 28: DOI: 10.1016/j.rmcr.2019.100911 AbstractThe pulmonary arterial pressure of a child with severe pulmonary arterial hypertension immediately normalized while breathing nitric oxide during heart catheterization at 8 years of age. Her acute pulmonary

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Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer

Leah Stevens, Elizabeth Colglazier, Claire Parker, Elena K. Amin, Hythem Nawaytou, David Teitel, Vadiyala M. Reddy, Carrie L. Welch, Wendy K. Chung, Jeffrey R. FinemanUniversity of California San Francisco. Columbia University Irving Medical Center. United States Pulmonary CirculationPulm Circ 2022; 12: DOI: 10.1002/pul2.12033 AbstractDespite therapeutic advances over the past decades, pulmonary arterial hypertension (PAH) and related

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The vascular phenotype of BPD: new basic science insights-new precision medicine approaches

Wojciech Durlak, Bernard ThébaudUniversity of Ottawa. Jagiellonian University Medical College. Poland and Canada Pediatric ResearchPediatr Res 2022; DOI: 10.1038/s41390-022-02428-7 AbstractBronchopulmonary dysplasia (BPD) is the most common complication of preterm birth. Up to 1/3 of children with BPD develop pulmonary hypertension (PH). PH increases mortality, the risk of adverse neurodevelopmental outcome and lacks effective treatment. Current vasodilator

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