Showing 41 - 60 results of 69 for search '"Congenital heart defect"', query time: 0.06s Refine Results
  1. 41
  2. 42

    Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome by Alisa Brennan, Anil Kesavan

    Published 2017-01-01
    “…Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. …”
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  3. 43

    First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes by Ana Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, Marcela Rodrigues Nunes, Rafaella Mergener, Luisa Pigatto Kalil, Patrícia Trevisan, Paulo Ricardo Gazzola Zen

    Published 2025-01-01
    “…It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome. …”
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  4. 44

    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

    Published 2025-01-01
    “…Abstract Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). …”
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  5. 45

    Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

    Published 2025-01-01
    “…In addition to common symptoms, such as developmental delay, microcephaly, distinctive facial features, and congenital heart defects, the patient also had nephrotic syndrome, a previously unreported phenomenon. …”
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  6. 46

    Cardiovascular patches applied in congenital cardiac surgery: Current materials and prospects by Mingze Sun, Vincent Reed LaSala, Caroline Giuglaris, David Blitzer, Sophia Jackman, Senay Ustunel, Kavya Rajesh, David Kalfa

    Published 2025-01-01
    “…Abstract Congenital Heart Defects (CHDs) are the most common congenital anomalies, affecting between 4 and 75 per 1000 live births. …”
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  7. 47

    The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities by Ghazaleh Ghorbannezhad, Reza Nejad Shahrokh Abadi, Farrokh Seilanian Toosi, Shima Shekari, Saeedeh Sadat Mirtooni, Narges Hashemi

    Published 2025-03-01
    “…JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. …”
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  8. 48

    Surviving All Odds: A Unique Case of Multiple Congenital Unruptured Sinus of Valsalva Aneurysms Involving Both Left and Right Coronary Sinuses with Biventricular Dysfunction and He... by Aniketh Vijay B, Vikrant Vijan, Navin Mathew

    Published 2016-01-01
    “…Aneurysms of the sinus of Valsalva are very uncommon, with an incidence ranging from 0.1 to 3.5% of all congenital heart defects. Very few cases have been reported in the literature that presented with involvement of two or more sinuses. …”
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  9. 49

    Beyond the usual challenges, a case of LV summit PVCs ablation in child with ASO for D-TGA by Mahmoud Abdelfattah, Eslam Ahmed, Ahmed Nasr, Mostafa El Husseny, Omnia Kamel

    Published 2024-12-01
    “…Abstract Premature ventricular contractions (PVCs) are a common finding in patients with surgically repaired congenital heart defects including transposition of the great arteries (D-TGA). …”
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  10. 50

    Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

    Published 2012-01-01
    “…The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. …”
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  11. 51

    The Heart-Placenta Axis in the First Month of Pregnancy: Induction and Prevention of Cardiovascular Birth Defects by Kersti K. Linask

    Published 2013-01-01
    “…Extrapolating from animal studies to human pregnancy, our studies showed that folate (FA) deficiency as well as one-time exposure to environmental factors in the first two to three weeks of human gestation can result in severe congenital heart defects (CHDs). Considering that approximately 49% of pregnancies are unplanned, this period of pregnancy can be considered high-risk for cardiac, as well as for neural, birth defects, as the woman usually is not aware of her pregnancy and may not yet be taking precautionary actions to protect the developing embryo. …”
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  12. 52

    Incidental imaging detection of Kartagener syndrome in a female: A case report by Natasha Dhakal, MBBS, Prajwal Dahal, MD

    Published 2025-03-01
    “…Treatment depends on the presence of associated conditions, such as congenital heart defects, respiratory infections and appropriate interventions with regular follow-up can help prevent complications. …”
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  13. 53

    A Role for the Cytoskeleton in Heart Looping by Kersti K. Linask, Michael VanAuker

    Published 2007-01-01
    “…In recent years, the steps involved in this central and complex process of heart development that is the basis of numerous congenital heart defects are being unraveled.…”
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  14. 54

    A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period by Kiichi Takahashi, Hiroyuki Adachi, Manatomo Toyono, Masato Ito, Akie Kato, Atsuko Noguchi, Tsutomu Takahashi

    Published 2020-01-01
    “…More than half of patients with GPS have congenital heart defects, mostly atrial and/or ventricular septal defects, patent foramen ovale, and patent ductus arteriosus. …”
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  15. 55

    Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome by Nihayatul Karimah

    Published 2024-08-01
    “… Background: Noonan syndrome, characterized by short stature, congenital heart defects, and facial dysmorphology, results from dysregulation of the Ras/MAPK pathway. …”
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  16. 56

    Insights from in vivo preclinical cancer studies with histotripsy by Tejaswi Worlikar, Timothy Hall, Man Zhang, Mishal Mendiratta-Lala, Michael Green, Clifford S. Cho, Zhen Xu

    Published 2024-12-01
    “…Histotripsy has been evaluated for various preclinical applications requiring noninvasive tissue removal including cancer, brain surgery, blood clot and hematoma liquefaction, and correction of neonatal congenital heart defects. Promising preclinical results including local tumor suppression, improved survival outcomes, local and systemic anti-tumor immune responses, and histotripsy-induced abscopal effects have been reported in various animal tumor models. …”
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  17. 57

    Enterococcus faecium Mediastinitis Complicated by Disseminated Candida parapsilosis Infection after Congenital Heart Surgery in a 4-Week-Old Baby by Hanna Renk, Felix Neunhoeffer, Florian Hölzl, Michael Hofbeck, Matthias Kumpf

    Published 2015-01-01
    “…Cardiac surgery offers multiple treatment options for children with congenital heart defects. However, infectious complications still remain a major cause of morbidity and mortality in these patients. …”
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  18. 58

    The Evaluation of Diagnostic Role of Cardiac Troponin T (cTnT) in Newborns with Heart Defects by Agata Tarkowska, Wanda Furmaga-Jablonska

    Published 2012-01-01
    “…Patients were divided into 2 main groups: group I—54 patients with congenital heart defects (CHDs), and group II (control)—29 healthy neonates. …”
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  19. 59

    Enhancing heart disease classification based on greylag goose optimization algorithm and long short-term memory by Ahmed M. Elshewey, Amira Hassan Abed, Doaa Sami Khafaga, Amel Ali Alhussan, Marwa M. Eid, El-Sayed M. El-kenawy

    Published 2025-01-01
    “…Heart rhythm disorders (arrhythmias), heart valve problems, congenital heart defects present at birth, and heart muscle disorders (cardiomyopathies) are other types of heart disease. …”
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  20. 60

    Recent Developments in Ventricular Assist Device Therapy by Angel Moctezuma-Ramirez, Haseeb Mohammed, Austin Hughes, Abdelmotagaly Elgalad

    Published 2025-01-01
    “…Advances in LVAD technology adapted for use in right ventricular assist devices (RVADs) make possible the effective management of right ventricular failure in patients with acute cardiac conditions or congenital heart defects. To address disparities in mechanical circulatory support (MCS) access, cost-effective VAD designs have been developed internationally. …”
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