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… 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… 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 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… 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… 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,… More > Graphic Abstract

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, Vol.17, No.6, pp. 709-716, 2022, 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… More >

Jodi L. Feinberg¹, Peter Sheng², Stephanie Pena², Adam J. Small¹, Susanna Wendelboe¹, Katlyn Nemani³, Vikram Agrawal⁴, Dan G. Halpern^1,*

Congenital Heart Disease, Vol.17, No.5, pp. 519-531, 2022, DOI:10.32604/chd.2022.024174

Abstract Background: Adults with congenital heart disease (ACHD) have increased prevalence of mood and anxiety disorders. There are limited data regarding the influence of the COVID-19 pandemic on the mental health and health behaviors of these patients. Objective: The purpose is to evaluate the perceptions, emotions, and health behaviors of ACHD patients during the COVID-19 pandemic. Methods: In this cross-sectional study of ACHD patients, we administered surveys evaluating self-reported emotions, perceptions and health behaviors. Logistic regressions were performed to determine the adjusted odds of displaying each perception, emotion and health behavior based on predictor variables. Results: Ninety-seven patients… More > Graphic Abstract

Jae Hee Seol^1,4,#, Se Yong Jung^1,#, Jae Young Choi¹, Han Ki Park², Young Hwan Park², Nam Kyun Kim^1,3,*

Congenital Heart Disease, Vol.17, No.5, pp. 569-578, 2022, DOI:10.32604/chd.2022.018436

Abstract Objective: Junctional ectopic tachycardia is common after cardiac surgery for congenital heart disease. However, its incidence and related risk factors in infants after cardiac surgery are not well known. The objective of this study was to determine the overall incidence and related risk factors for junctional ectopic tachycardia in neonates and infants. Methods: We enrolled a total of 271 patients aged <1 year who underwent open cardiac surgery at Severance Cardiovascular Hospital from January 2018 to December 2020. Exclusion criteria were immediate postoperative mortality, other arrhythmias detected in the perioperative period, and prematurity. Result: The overall incidence of… More >

Eszter Vojcek^1,2,*, V. Anna Gyarmathy^3,4, Rozsa Graf⁵, Anna M. Laszlo⁶, Laszlo Ablonczy⁷, Zsolt Prodan⁷, Istvan Seri^1,8

Congenital Heart Disease, Vol.17, No.4, pp. 447-461, 2022, DOI:10.32604/chd.2022.022274

Abstract Objective: Neonates with congenital heart disease (CHD) and perinatal stroke have high mortality and survivors are at risk for poor long-term neurodevelopmental outcome. The aim of this study was to assess the risk factors and outcome of neonates with both CHD and MRI-confirmed perinatal stroke (Study Group) and compare those to the risk factors and outcome of infants matched for CHD without stroke (Control-1) and of infants matched for MRI-confirmed stroke without CHD (Control-2). Methods: We conducted a population-based case-control study enrolling 28 term neonates with CHD and MRI-confirmed acute perinatal stroke born between 2007–2017 in… More > Graphic Abstract