Shuqin Zhang^1,#, Bin Zhang^2,#, Jianying Wu³, Jin Luo¹, Haomin Shi¹, Jirong Qi^3,4,*, Huilian Yang^1,5,*

Congenital Heart Disease, Vol.18, No.2, pp. 127-150, 2023, DOI:10.32604/chd.2023.025616

Abstract Objectives: To estimate the prevalence of Congenital Heart Disease (CHD) in school-age children, to identify the extent to which altitude affects the prevalence of the disease, and to examine trends in prevalence over time in China. Methods: Seven databases were systematically searched and last retrieved on September 10, 2021 for all studies reporting the prevalence of CHD in children after 1970 in China, which were then divided into high and low altitude regions based on 2500 meters above sea level. The random-effected model was used to combine prevalence data and subgroups analysis. The baseline data of all cases and individuals… More > Graphic Abstract

Alain J. Poncelet^1,*, Maureen Peers de Nieuwburgh², Stéphane Moniotte², Geoffroy de Beco¹, Karlien Carbonez², Jean E. Rubay¹, Thierry Detaille³, Laurent Houtekie³, Mona Momeni⁴

Congenital Heart Disease, Vol.18, No.2, pp. 151-168, 2023, DOI:10.32604/chd.2023.022636

Abstract Background: Most outcome studies in congenital cardiac surgery for “low weight” neonates include patients undergoing surgery without cardiopulmonary bypass (CPB). The primary objective of our study was to identify risk factors for in-hospital mortality in neonates weighing less than 3 Kg and undergoing surgery with CPB. In addition, we compared the effect of early surgery with CPB (before 37W-gestational age (GA)) for congenital heart disease to delayed surgery until a corrected GA of 37 weeks in an attempt to promote weight gain. Methods: Retrospective single-center study including all patients operated between 1997 and 2017. Uni- and multivariable analysis were used… More >

Efrén Martínez-Quintana^1,2,*, Hiurma Estupiñán-León², Ana Beatriz Rojas-Brito², Liuva Déniz-Déniz², Alejandro Barreto-Martín², Fayna Rodríguez-González³

Congenital Heart Disease, Vol.18, No.2, pp. 197-206, 2023, 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 >

Lilia Oreto^1,*, Giuseppe Mandraffino², Paolo Ciliberti³, Teresa P. Santangelo⁴, Placido Romeo⁵, Antonio Celona⁵, Placido Gitto¹, Lorenzo Galletti³, Fiore S. Iorio³, Alfredo Di Pino¹, Aurelio Secinaro⁴, Paolo Guccione³, Robert H. Anderson⁶, Salvatore Agati¹

Congenital Heart Disease, Vol.18, No.1, pp. 97-111, 2023, DOI:10.32604/chd.2022.023619

Abstract Aims: Evidence is emerging that, in the setting of isomerism, the atrial and bronchial arrangement are not always concordant, nor are these patterns always harmonious with the arrangement of the abdominal organs. We aimed to evaluate the concordance between these features in a cohort of patients with cardiac malformations in the setting of known isomerism, seeking to determine whether it was feasible to assess complexity on this basis, in this regard taking note of the potential value of bronchial as opposed to appendage morphology. Methods and Results: We studied 78 patients known to have isomerism of the bronchuses, 43 with… More > Graphic Abstract

Wenlei Qian^1,#, Xinzhu Zhou^2,#, Ke Shi¹, Li Jiang¹, Xi Liu³, Liting Shen¹, Zhigang Yang^1,*

Congenital Heart Disease, Vol.18, No.1, pp. 113-125, 2023, DOI:10.32604/chd.2023.023542

Abstract Background: Pulmonary atresia (PA) is a group of heterogeneous complex congenital heart disease. Only one study modality might not get a correct diagnosis. This study aims to investigate the diagnostic power of dual-source computed tomography (DSCT) for all intracardiac and extracardiac deformities in patients with PA compared with transthoracic echocardiography (TTE). Materials and Methods: This retrospective study enrolled 79 patients and divided them into three groups according to their main diagnosis. All associated malformations and clinical information, including treatments, were recorded and compared among the three groups. The diagnostic power of DSCT and TTE on all associated malformations were compared.… More > Graphic Abstract

Ji-Yang Zuo^1,2, Huan-Xin Chen^1,2, Zhi-Gang Liu^1,2, Qin Yang^1,2, Guo-Wei He^1,2,*

Congenital Heart Disease, Vol.18, No.1, pp. 7-21, 2023, 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 > Graphic Abstract

Igor Mokryk^1,2,*, Vitaly Demyanchuk^1,2, Volodymyr Vashkeba², Ilya Nechay¹, Borys Todurov^1,2

Congenital Heart Disease, Vol.17, No.6, pp. 641-646, 2022, DOI:10.32604/chd.2022.025096

Abstract Congenital heart disease (CHD) is one of the risk factors for developing infective endocarditis (IE). Right-sided IE occurs in 5%–10% of endocarditis cases, and pulmonary valve (PV) is involved in less than 2% of such patients. Literature data are few, and optimal treatment methods, indications for surgery, and types of operative techniques are still under debate. We present an adult patient with a rare combination of the ventricular septal defect (VSD) and PV IE who underwent surgical treatment. Neocuspidization with autologous pericardium was utilized for the reconstruction of his PV. We discuss details of this novel surgical technique. More > Graphic Abstract

Emma Payne^1,2, Thomas Wilson^2,3, Marjan Haghighi^1,4, Zoe McCallum^2,3, Yves d’Udekem⁵, Julian Ayer^1,4,*

Congenital Heart Disease, Vol.17, No.6, pp. 617-639, 2022, DOI:10.32604/chd.2022.024775

Abstract Background: Patients born with a single ventricle circulation commonly experience growth failure in early life, which is associated with adverse outcomes in infancy. However, associations between bodyweight or weight trajectory and clinical outcome post-Fontan procedure are yet to be determined. Methods: On the 1st of July 2021, a systematic review was performed in MEDLINE, EMBASE, the Cochrane Library, and Scopus of studies of patients with clinical outcome data post-Fontan procedure and association with bodyweight. Quality of studies was evaluated by Newcastle–Ottawa scale for cohort studies and Joanna Briggs Institute tool for cross-sectional studies. Results: Of 527 studies that underwent title… More >

Rui Jiang^1,3,*, Kaisheng Lai², Jianping Xu¹, Xiang Feng¹, Shaoye Wang¹, Xiaojian Wang³, Zhe Liu²

Congenital Heart Disease, Vol.17, No.6, pp. 675-686, 2022, 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 >

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, Vol.17, No.6, pp. 653-673, 2022, 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 > Graphic Abstract