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Huan Zhou^1,#, Jin Kang^2,#, Jun Gao^2,*, 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 >

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Daniel Quandt^1,4,5,#,*, Alessia Callegari^1,4,5,#, Oliver Niesse^1,4,5, Martin Christmann^1,4,5, Anke Meinhold^2,4,5, Hitendu Dave^3,4,5, Walter Knirsch^1,4,5, Oliver Kretschmar^1,4,5
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 >

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ARTICLE

Rui Jiang^1,3,*, 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 >

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ARTICLE

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 Lee^1,6,*
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 >

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ARTICLE

Shuting Chang^1,2, Guanzhao Zhang^2,3, 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 Li^2,*
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 >

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94

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ARTICLE

Efrén Martínez-Quintana^1,2,*, 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 >

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