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  • 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, 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 >

  • 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, 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

    Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

  • 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, 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 CHD, and then the… More >

  • Open Access

    ARTICLE

    Emotions, Perceptions and Health Behaviors of Adult Congenital Heart Disease Patients during COVID-19 in New York City

    Jodi L. Feinberg1, Peter Sheng2, Stephanie Pena2, Adam J. Small1, Susanna Wendelboe1, Katlyn Nemani3, Vikram Agrawal4, Dan G. Halpern1,*

    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 (mean age 38.3… More > Graphic Abstract

    Emotions, Perceptions and Health Behaviors of Adult Congenital Heart Disease Patients during COVID-19 in New York City

  • Open Access

    META-ANALYSIS

    The Relationship between T-Wave Alternans and Adverse Cardiac Events in Patients with Congenital Long QT Syndrome: A Systematic Review and Meta-Analysis

    Ying Yang1,#, Tingting Lv2,#, Siyuan Li1, Ping Zhang1,2,*

    Congenital Heart Disease, Vol.17, No.5, pp. 557-567, 2022, DOI:10.32604/CHD.2021.017292

    Abstract Background: T-wave alternans (TWA) is a risk factor of ventricular arrhythmias or sudden cardiac death (SCD) in patients with ischemic cardiomyopathy. Nevertheless, the relationship between TWA and adverse cardiac events (ACE) in patients with congenital long QT syndrome (LQT) remains controversial. Methods: A systematic electronic search of PubMed, Embase and the Cochrane Library was conducted from database inception dates to 28 April 2021 and assessed the relationship between TWA and ACE in patients with LQTS. Sub-group analysis evaluated the association between microvolt TWA (MTWA) and ACE in different monitoring models and ECGlead numbers. Results: A pooled analysis of seven studies… More >

  • Open Access

    ARTICLE

    Incidence and Related Risk Factors of Junctional Ectopic Tachycardia in Infants after Cardiac Surgery for Congenital Heart Disease

    Jae Hee Seol1,4,#, Se Yong Jung1,#, Jae Young Choi1, Han Ki Park2, Young Hwan Park2, Nam Kyun Kim1,3,*

    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 junctional ectopic… More >

  • Open Access

    ARTICLE

    An Effective Machine-Learning Based Feature Extraction/Recognition Model for Fetal Heart Defect Detection from 2D Ultrasonic Imageries

    Bingzheng Wu1, Peizhong Liu1, Huiling Wu2, Shunlan Liu2, Shaozheng He2, Guorong Lv2,3,*

    CMES-Computer Modeling in Engineering & Sciences, Vol.134, No.2, pp. 1069-1089, 2023, DOI:10.32604/cmes.2022.020870

    Abstract Congenital heart defect, accounting for about 30% of congenital defects, is the most common one. Data shows that congenital heart defects have seriously affected the birth rate of healthy newborns. In Fetal and Neonatal Cardiology, medical imaging technology (2D ultrasonic, MRI) has been proved to be helpful to detect congenital defects of the fetal heart and assists sonographers in prenatal diagnosis. It is a highly complex task to recognize 2D fetal heart ultrasonic standard plane (FHUSP) manually. Compared with manual identification, automatic identification through artificial intelligence can save a lot of time, ensure the efficiency of diagnosis, and improve the… More >

  • Open Access

    ARTICLE

    Mortality and Long-Term Outcome of Neonates with Congenital Heart Disease and Acute Perinatal Stroke: A Population-Based Case-Control Study

    Eszter Vojcek1,2,*, V. Anna Gyarmathy3,4, Rozsa Graf5, Anna M. Laszlo6, Laszlo Ablonczy7, Zsolt Prodan7, Istvan Seri1,8

    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 the Central-Hungarian Region. Each… More > Graphic Abstract

    Mortality and Long-Term Outcome of Neonates with Congenital Heart Disease and Acute Perinatal Stroke: A Population-Based Case-Control Study

  • Open Access

    ARTICLE

    Congenital Coronary Artery Fistula in Children: A Review of 28 Cases with Clinical and Imaging Outcomes

    Pornrawee Plearntummakun1, Chodchanok Vijarnsorn1,*, Kritvikrom Durongpisitkul1, Prakul Chanthong1, Paweena Chungsomprasong1, Supaluck Kanjanauthai1, Thita Pacharapakornpong1, Jarupim Soongswang1, Thaworn Subtaweesin2

    Congenital Heart Disease, Vol.17, No.4, pp. 463-478, 2022, DOI:10.32604/chd.2022.021545

    Abstract Background: Congenital coronary artery fistula (CCAF) is a rare anomaly. Treatment strategies tend to close the defect with a symptomatic and significant shunt, primarily based on expert consensus and case series. Results for long-term follow-up in children are limited Methods: We conducted a retrospective study to assess clinical and imaging outcomes of children with CCAF at Siriraj Hospital, Thailand during 2000–2020. Patients with single ventricle were excluded. Treatment strategies [surgical closure (SC), and percutaneous closure (PC)] were classified and the clinical outcomes at the follow-up in 2021, including coronary thrombosis, myocardial ischemia, and the results of cardiovascular imaging were reviewed.… More > Graphic Abstract

    Congenital Coronary Artery Fistula in Children: A Review of 28 Cases with Clinical and Imaging Outcomes

  • Open Access

    ARTICLE

    Diagnostic Yield of Non-Invasive Testing in Patients with Anomalous Aortic Origin of Coronary Arteries: A Multicentric Experience

    Alberto Cipriani1,#, Pietro Bernardo Dall’Aglio1,#, Laura Mazzotta1, Domenico Sirico2, George Sarris3, Mark Hazekamp4, Thierry Carrel5, Alessandro Frigiola6, Vladimir Sojak4, Mauro Lo Rito6, Jurgen Horer7, Regine Roussin7, Julie Cleuziou8, Bart Meyns9, Jose Fragata10, Helena Telles10, Anastasios C. Polimenakos11, Katrien Francois12, Altin Veshti13, Jukka Salminen14, Alvaro Gonzalez Rocafort15, Matej Nosal16, Eleftherios Protopapas3, Roberto Tumbarello17, Patrizio Sarto18, Cinzia Pegoraro18, Raffaella Motta19, Giovanni Di Salvo2, Domenico Corrado1, Vladimiro L. Vida1, Massimo A. Padalino1,2,*

    Congenital Heart Disease, Vol.17, No.4, pp. 375-385, 2022, DOI:10.32604/chd.2022.019385

    Abstract Background: Anomalous aortic origin of a coronary artery (AAOCA) is a congenital heart disease with a 0.3%−0.5% prevalence. Diagnosis is challenging due to nonspecific clinical presentation. Risk stratification and treatment are currently based on expert consensus and single-center case series. Methods: Demographical and clinical data of AAOCA patients from 17 tertiary-care centers were analyzed. Diagnostic imaging studies (Bidimensional echocardiography, coronary computed tomography angiography [CCTA] were collected. Clinical correlations with anomalous coronary course and origin were evaluated. Results: Data from 239 patients (42% males, mean age 15 y) affected by AAOCA were collected; 154 had AAOCA involving the right coronary artery… More > Graphic Abstract

    Diagnostic Yield of Non-Invasive Testing in Patients with Anomalous Aortic Origin of Coronary Arteries: A Multicentric Experience

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