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  • Open Access

    ARTICLE

    Genetic Analysis of Variants of the MYH6 Gene Promoter in Congenital Atrial Septal Defects

    Ji-Yang Zuo1,2, Huan-Xin Chen1,2, Zhi-Gang Liu1,2, Qin Yang1,2, Guo-Wei He1,2,*
    Congenital Heart Disease, DOI:10.32604/chd.2022.025451
    Abstract Background: Atrial septal defect (ASD) is one of the common congenital heart diseases. The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored. Methods: In 613 subjects including 320 ASD patients, we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis. Results: Eleven variants were identified in the MYH6 gene promoter, of which four variants were found only in ASD patients, and two variants (g.3434G>C and g.4524C>T) were identified for the first time.… More >

  • Open Access

    ARTICLE

    Early Cardiac Catheterizations within 30 Days Post Congenital Heart Surgery in Children

    Daniel Quandt1,4,5,#,*, Alessia Callegari1,4,5,#, Oliver Niesse1,4,5, Martin Christmann1,4,5, Anke Meinhold2,4,5, Hitendu Dave3,4,5, Walter Knirsch1,4,5, Oliver Kretschmar1,4,5
    Congenital Heart Disease, DOI:10.32604/chd.2022.022401
    Abstract Background: This study set out to assess the indications, feasibility, safety, and outcome of early cardiac catheterizations (CC) within 30 days after congenital heart surgery (CHS) in children. Methods and Results: This is a retrospective, single-center case review study of all CC within 30 days after CHS between 1/2010-12/2020. A total of 317 (138 diagnostic, 179 interventional) CC were performed in 245 patients at a median of 4 days (IQR 13) after CHS. The median age was 3 months (IQR 6), and body weight was 5 kg (IQR 4). A total of 194 (61.2%) CC were performed in patients with… More >

  • Open Access

    ARTICLE

    Quality of Life in Congenital Heart Disease Patients According to Their Anatomical and Physiological Classification

    Efrén Martínez-Quintana1,2,*, Hiurma Estupiñán-León2, Ana Beatriz Rojas-Brito2, Liuva Déniz-Déniz2, Alejandro Barreto-Martín2, Fayna Rodríguez-González3
    Congenital Heart Disease, DOI:10.32604/CHD.2021.013308
    Abstract Background: Living well is as important as living longer. The objective of this study is to assess quality of life (QoL) in congenital heart disease (CHD) according to current AHA/ACC anatomical and physiological classifi- cation. Methods: Cross-sectional study examining the World Health Organization QoL Bref questionnaire (WHOQoL-Bref) in consecutive outpatient CHD patients from a single unit. Results: 191 CHD patients were studied. Median age was 28 ± 13 years and 59% were male. 44 (23%), 115 (60%) and 33 (17%) CHD patients showed mild, moderate and great anatomical defects respectively while 69 (36%) patients were in physiological Stage A, 27… More >