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  • Open Access

    ARTICLE

    Evaluation of Biventricular Volume and Systolic Function in Children with Ventricular Septal Defect and Moderate to Severe Pulmonary Hypertension Using Real-Time Three-Dimensional Echocardiography

    Huan Zhou1,#, Jin Kang2,#, Jun Gao2,*, Xiaoyuan Feng1, Li Zhou2, Xia Xiao2, Zhengliang Meng2, Chengwen Guo2
    Congenital Heart Disease, DOI:10.32604/chd.2022.022648
    Abstract Background: Real-time three-dimensional echocardiography (RT-3DE) could obtain ventricular volume and ejection fraction rapidly and non-invasively without relying on ventricular morphology. This study aims to use RT-3DE to evaluate the changes in biventricular volume and systolic function in children with ventricular septal defect (VSD) and moderate to severe pulmonary hypertension (PH) before surgery. Methods: In this study 18 children with VSD and moderate to severe PH (VSD + PH Group) and 18 healthy children of the same age (Control Group) were recruited. Biventricular volume and systolic function were evaluated by RT-3DE. The measurements included: left and right ventricular volume indexed to… 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

    NOTCH3 Mutations and CADASIL Phenotype in Pulmonary Arterial Hypertension Associated with Congenital Heart Disease

    Rui Jiang1,3,*, Kaisheng Lai2, Jianping Xu1, Xiang Feng1, Shaoye Wang1, Xiaojian Wang3, Zhe Liu2
    Congenital Heart Disease, DOI:10.32604/chd.2022.021626
    Abstract Background: The etiology of pulmonary arterial hypertension associated with congenital heart disease (PAHCHD) is complicated and the phenotype is heterogeneous. Genetic defects of NOTCH3 were associated with cerebral disease and pulmonary hypertension. However, the relationship between NOTCH3 mutations and the clinical phenotype has not been reported in CHD-PAH. Methods: We eventually enrolled 142 PAH-CHD patients from Fuwai Hospital. Whole exome sequencing (WES) was performed to screen the rare deleterious variants of NOTCH3 gene. Results: This PAH-CHD cohort included 43 (30.3%) men and 99 (69.7%) women with the mean age 29.8 ± 10.9 years old. The pathogenic or likely pathogenic mutations… More >

  • Open Access

    ARTICLE

    Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

    Jun Sung Park1, Go Hun Seo2, Yunha Choi1, Soojin Hwang1, Minji Kang3, Hyo-Sang Do3, Young-Hwue Kim4, Jeong Jin Yu4, Ellen Ai-Rhan Kim5, Euiseok Jung5, Byong Sop Lee5, Jae Suk Baek4, Beom Hee Lee1,6,*
    Congenital Heart Disease, DOI:10.32604/chd.2022.021580
    Abstract Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally, multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This study investigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHD and the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromic CHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center, and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiac phenotypes were measured as 3.66 ± 3.05 (standard deviation, interquartile range: 2–5)… More >

  • Open Access

    ARTICLE

    Prevalence of Congenital Heart Disease at Extremely High Altitudes in Tibet and the Establishment of a New Free Treatment Model

    Shuting Chang1,2, Guanzhao Zhang2,3, Nengjun Sun2, Xinpeng Yuan4, Qingting Wang5, Lin Zhu6, Feiyue Zhang7, Yu Xiu4, Yang Dong8, Yonghong Chen9, Zhanpeng Zhao10, Xiao Liu4, Qiang Shao11, Xiaofeng Xu12, Anshun Wang13, Mengjiao Li14, Bo Li2,*
    Congenital Heart Disease, DOI:10.32604/chd.2022.018657
    Abstract Background: This study aimed to illustrate the prevalence of CHD by screening children in extremely high-altitude areas (over 4000 m to even 5000 m above sea level) and explore an aid model for early diagnosis and treatment for the Tibetan population. Methods: A total of 2242 students from different schools in Ngamring County, Xigaze city, Tibet from September 2019 to September 2020 were selected for screening. The students were examined through the inquiry of their current medical history and family history, cardiac auscultation and a physical examination, in order to screen out the suspected cases of CHD, and then the… 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 >