Genetic Factors Associated With Pulmonary Vascular Disease

Progressive pulmonary vein stenosis in Down syndrome infant: a rare cause of pulmonary hypertension

Norazah Zahari, Joyce Darshinee Dom SirisaniUniversity of Malaya.Malaysia Medical Journal of MalaysiaMed J Malaysia 2018; 73: 119-120DOI: Not available AbstractPulmonary veins stenosis in a Down Syndrome infant with normal connection pulmonary vein is rare and precise incidence of this disease is unknown. We report a case of progressive multiple pulmonary vein stenosis in a Down […]

Progressive pulmonary vein stenosis in Down syndrome infant: a rare cause of pulmonary hypertension Read More »

Repair of Total Anomalous Pulmonary Venous Connection: Risk Factors for Postoperative Obstruction

Brian R. White, Deborah Y. Ho, Jennifer A. Faerber, Hannah Katcoff, Andrew C. Glatz, Christopher E. Mascio, Paul Stephens Jr., Meryl S. CohenChildren’s Hospital of Philadelphia.United States Annals of Thoracic SurgeryAnn Thorac Surg 2019; 108: 122-129DOI: 10.1016/j.athoracsur.2019.02.017 AbstractBackground: Pulmonary venous obstruction after repair of total anomalous pulmonary venous connection (TAPVC) results in substantial morbidity and mortality. Risk

Repair of Total Anomalous Pulmonary Venous Connection: Risk Factors for Postoperative Obstruction Read More »

Left hypoplastic lung and hemoptysis-rare familial unilateral pulmonary vein atresia

Ronly Har-Even Cohn, Matthew Hicks, Atilano Lacson, Anne HicksUniversity of Alberta.Canada Clinical Case ReportsClin Case Rep 2020; 8: 1698-1703DOI: 10.1002/ccr3.2982 AbstractUnilateral pulmonary vein atresia (UPVA) is a rare congenital vascular malformation with obliteration of the pulmonary vein. We present a case series of three siblings with variable presentation of UPVA. We suggest a dominant genetic cause based on different paternity.

Left hypoplastic lung and hemoptysis-rare familial unilateral pulmonary vein atresia Read More »

Longer Exposure to Left-to-Right Shunts Is a Risk Factor for Pulmonary Vein Stenosis in Patients with Trisomy 21

Connie Choi, Kimberlee Gauvreau, Philip Levy, Ryan Callahan, Kathy J. Jenkins, Minghui ChenHarvard Medical School and Boston Children’s Hospital.United States ChildrenChildren 2021; 8: DOI: 10.3390/children8010019 AbstractWe conducted a study to determine whether patients born with Trisomy 21 and left-to-right shunts who develop pulmonary vein stenosis (PVS) have a longer exposure to shunt physiology compared to those

Longer Exposure to Left-to-Right Shunts Is a Risk Factor for Pulmonary Vein Stenosis in Patients with Trisomy 21 Read More »

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis

Abbas H. Zaidi, Jessica M. Yamada, David T. Miller, Kerry McEnaney, Christina Ireland, Amy E. Roberts, Kimberlee Gauvreau, Kathy J. Jenkins, Ming Hui ChenBoston Children’s Hospital and Harvard Medical School.United States ChildrenChildren 2021; 8: DOI: 10.3390/children8020128 AbstractPulmonary vein stenosis (PVS) is a rare, frequently lethal disease with heterogeneous phenotypes and an unclear etiology. Limited studies have

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis Read More »

Characterizing the Spatiotemporal Transcriptomic Response of the Right Ventricle to Acute Pressure Overload

Vitaly O. Kheyfets, Sushil Kumar, Paul M. Heerdt, Kenzo Ichimura, R. Dale Brown, Melissa Lucero, Ilham Essafri, Sarah Williams, Kurt R. Stenmark, Edda SpiekerkoetterUniversity of Colorado. Yale School of Medicine. Stanford University. he University of Queensland.United States and Australia International Journal of Molecular SciencesInt J Mol Sci 2023; 24: DOI: 10.3390/ijms24119746 AbstractThis study analyzed microarray data

Characterizing the Spatiotemporal Transcriptomic Response of the Right Ventricle to Acute Pressure Overload Read More »

Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report

Kantisa Sirianansopa, Pharsai Prasertsan, Kanokpan Ruangnapa, Kantara Saelim, Phawin Kor-anantakulFaculty of Medicine Prince of Songkla University. Thailand Respirology Case ReportsRespirol Case Rep 2023; 11: DOI: 10.1002/rcr2.1089 AbstractAlveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital diffuse lung disorder, with a fatal course during the neonatal period. We describe an 18-month-old boy

Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report Read More »

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major

Azza Abdel Gawad Tantawy, Mourad Alfy Ramzy Tadros, Amira Abdel Moneam Adly, Eman Abdel Rahman Ismail, Fatma A. Ibrahim, Nanis Mohammed Salah Eldin, Mahitab Morsy Hussein, Mervat Abdalhameed Alfeky, Sarah Mohammed Ibrahim, Marwa Adel Hashem, Fatma Soliman, Elsayed EbeidAin Shams University. Military Medical Services and Military Medical Academy. National Research Center. Egypt CytokineCytokine 2023; DOI: 10.1016/j.cyto.2022.156048

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major Read More »

Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins

Fatemeh Kohram, Zicheng Deng, Yufang Zhang, Abid Al Reza, Enhong Li, Olena A Kolesnichenko, Samriddhi Shukla, Vladimir Ustiyan, Jose Gomez-Arroyo, Anusha Acharya, Donglu Shi, Vladimir V. Kalinichenko, Alan P. KennyUniversity of Cincinnati and Cincinnati Children’s Hospital Medical Center and University of Cincinnati.United States BiologicsBiologics 2023; 17: 43-55DOI: 10.2147/BTT.S400006 AbstractIntroduction: Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins (ACDMPV)

Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Read More »

Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration

Christopher Goyne, Leena KansalUniversity of California San Diego.United States NeurologyNeurology 2023; 100: 486-489DOI: 10.1212/WNL.0000000000201695 AbstractCobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12. This leads to a wide range of clinical manifestations including cognitive impairment, psychiatric symptoms, myelopathy, thrombotic events, glomerulonephritis,

Pearls & Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration Read More »

Scroll to Top