Showing 21 - 40 results of 69 for search '"Congenital heart defect"', query time: 0.07s Refine Results
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    Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay by Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

    Published 2025-01-01
    “…Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance. …”
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    Swiss Cheese-Like Atrial Septal Defect – Percutaneous Closure in Adulthood by Dorottya Kecskeméti, Márton Vértesaljai

    Published 2024-12-01
    “…Atrial septal defect (ASD) is one of the most common congenital heart defect (CHD), however multiplex, swiss cheese like ASDs are quite uncommon. …”
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    Genetic Insights into Bicuspid Aortic Valve Formation by Brigitte Laforest, Mona Nemer

    Published 2012-01-01
    “…Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the population. …”
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    The Genetic and Imaging Key to Understanding Bicuspid Aortic Valve Disease by Vaneeza Moosa, Julio Garcia

    Published 2025-01-01
    “…Bicuspid Aortic Valve (BAV) is a prevalent congenital heart defect, characterized by the presence of two cusps instead of three, leading to significant clinical implications such as aortic stenosis, regurgitation, and aneurysms. …”
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    Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) by Norma Elena de León Ojeda, Michel Soriano-Torres, Mercedes J. Cabrera, Dunia Bárbara Benítez Ramos

    Published 2012-01-01
    “…We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. …”
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    Partial anomalous pulmonary venous connection and an incidental aberrant right subclavian artery: A rare case report by Ashish Khadka, MD, Aakash Neupane, MBBS, Pramodman Singh Yadav, MBBS, Leeza Shah, MD, Abinash Dev, MBBS, Sabin Ghale, MBBS, MBBS, Amisha Karki, MBBS

    Published 2025-04-01
    “…Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital heart defect where some pulmonary veins drain into the right atrium instead of the left. …”
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    Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report by Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, Elizabeth Welch

    Published 2012-01-01
    “…There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. …”
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    Ultrasound diagnosis and monitoring of fetal tachyarrhythmias by Yu.А. Ivaniv, N.V. Lozynska

    Published 2017-12-01
    “…Atrial fibrillation was second prevalent in our study, 4 cases (16 %) – dangerous arrhythmia, which in most fetuses caused circulatory failure, being combined with congenital heart defect or myocardial pathology. Drug treatment in this group is less effective, depending on comorbidity and age pregnancy. …”
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    Anaesthetic Management of a Neonate with Ebstein’s Anomaly Undergoing a Meningomyelocele Surgery: A Case Report by Prakriti, Monika Yadav, Vaishali Gupta, Komal Yadav, Shikha Garg

    Published 2025-01-01
    “…Ebstein’s Anomaly (EA) is a congenital heart defect characterised by the downward displacement of the posterior and septal leaflets of the tricuspid valve toward the right ventricular apex. …”
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    Diet diversity score might be associated with reproductive health in women and infant outcomes: a systematic review by Paniz Ahmadi, Niloofar Bayat, Behnood Abbasi

    Published 2024-01-01
    “…Due to our results, a higher score in DDS, which led to an increased intake of major nutrients and a greater variety of foods, was correlated with a lower risk of reproductive health disorders such as polycystic ovary syndrome, maternal anaemia, and maternal bone status, as well as a reduced likelihood of certain birth outcomes, including low-birth weight infants, Apgar score and congenital heart defect. These findings highlight the importance of improving the DDS for maternal and infant health.…”
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    COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services by Ingeborg Barisic, Carlos Matias Dias, Amanda Neville, Anna Pierini, Anke Rissmann, Joan K Morris, Judith Rankin, Ester Garne, Anna Latos-Bielenska, Elena Marcus, Anna Jamry-Dziurla, Ljubica Odak, Clara Cavero- Carbonell, Elly Den Hond, Lucas Genard, Ana João Santos, L Renée Lutke, Christina Neergaard Pedersen, Annika Niemann, Lucía Páramo-Rodríguez

    Published 2022-07-01
    “…Objective To survey parents and carers of children with a congenital anomaly across Europe about their experiences of healthcare services and support during the COVID-19 pandemic.Design Cross-sectional study.Setting Online survey in 10 European countries, open from 8 March 2021 to 14 July 2021.Population 1070 parents and carers of children aged 0–10 years with a cleft lip, spina bifida, congenital heart defect (CHD) requiring surgery and/or Down syndrome.Main outcome measures Parental views about: the provision of care for their child (cancellation/postponement of appointments, virtual appointments, access to medication), the impact of disruptions to healthcare on their child’s health and well-being, and satisfaction with support from medical sources, organisations and close relationships.Results Disruptions to healthcare appointments were significantly higher (p<0.001) in the UK and Poland, with approximately two-thirds of participants reporting ‘cancelled or postponed’ tests (67/101; 256/389) and procedures compared with approximately 20% in Germany (13/74) and Belgium/Netherlands (11/55). …”
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    Absent Pericardium Causing Extreme Levoposition in a Child by Filippos‐Paschalis Rorris, Alexandros Tsoutsinos, Meletios Kanakis

    Published 2025-01-01
    “…ABSTRACT During surgical repair of congenital heart defects, surgeons often come across anomalies that might not have been adequately illustrated in preoperative imaging. …”
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    An Unusual Mechanism of Closure of Muscular Ventricular Septal Defects by Soham Dasgupta, Ashraf M. Aly

    Published 2017-01-01
    “…Ventricular septal defects (VSDs) are the most common congenital heart defects. Most of the small or moderate size (<6 mm) muscular VSDs close spontaneously within the first two years of life. …”
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    Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

    Published 2016-01-01
    “…Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. …”
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