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  • Open Access


    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


    Effectiveness of Bilateral Pulmonary Artery Banding in Patients with Hypoplastic Left Heart Syndrome and Congenital Heart Defects with A Functional Single Ventricle: A Single-Center Retrospective Study

    Vitaliy Suvorov1,*, Vladimir Zaitcev1, Karolina Andrzejczyk2

    Congenital Heart Disease, Vol.17, No.3, pp. 365-374, 2022, DOI:10.32604/chd.2022.019126

    Abstract Background: Bilateral banding of the branches of the pulmonary artery in patients with hypoplastic left heart syndrome (HLHS) and other duct dependent critical neonatal heart malformations can significantly reduce the incidence of severe complications in the postoperative period, especially in severely unstable patients. In our study we compared different surgical techniques of bilateral pulmonary artery banding (PAB) in respect to their success in balancing systemic and pulmonary blood flow. Methods: We included 44 neonates with a HLHS and congenital heart diseases (CHD) with a functional single ventricle underwent a hybrid operation: bilateral PAB and patent ductus arteriosus stenting. The hybrid… More >

  • Open Access


    2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping

    Sanam Safi1,2, Takato Yamasaki1,3, David J. Glidden4, Stephen P. Sanders1,5, Chrystalle Katte Carreon1,6,*

    Congenital Heart Disease, Vol.17, No.2, pp. 141-146, 2022, DOI:10.32604/chd.2022.019743

    Abstract A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary atresia, large secundum atrial septal defect, and right aortic arch with mirror-image branching, consistent with developmental arrest early in heart looping. To the best of our knowledge, no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology. Hence, this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome. More >

  • Open Access


    Characteristics of In-Hospital Patients with Congenital Heart Disease Requiring Rapid Response System Activations: A Japanese Database Study

    Taiki Haga1,*, Tomoyuki Masuyama2, Yoshiro Hayashi3, Takahiro Atsumi4, Kenzo Ishii5, Shinsuke Fujiwara6

    Congenital Heart Disease, Vol.17, No.1, pp. 31-43, 2022, DOI:10.32604/CHD.2022.017407

    Abstract Objectives: This study aimed to study the characteristics of in-hospital deterioration in patients with congenital heart disease who required rapid response system activation and identify risk factors associated with 1-month mortality. Methods: We retrospectively analysed data from a Japanese rapid response system registry with 35 participating hospitals. We included consecutive patients with congenital heart disease who required rapid response system activation between January 2014 and March 2018. Logistic regression analyses were performed to examine the associations between 1-month mortality and other patient-specific variables. Results: Among 9,607 patients for whom the rapid response system was activated, only 82 (0.9%) had congenital… More >

  • Open Access


    Epicardial Versus Endocardial Pacemakers in the Pediatric Population: A Comparative Inquiry

    Mohammadrafie Khorgami1, Ali Sadeghpour Tabaei2,*, Elio Caruso3,*, Silvia Farruggio3, Negar Omidi4, Maryam Moradian1, Behzad Mohammadpour Ahranjani5, Zahra Khajali6 and Rahele Zamani1

    Congenital Heart Disease, Vol.16, No.6, pp. 573-584, 2021, DOI:10.32604/CHD.2021.016271

    Abstract Background: Most children in need of cardiac pacemakers remain dependent on the function of the permanent from childhood to adulthood. We sought to evaluate and compare the function between epicardial and endocardial pacemakers in pediatric groups with different conditions. Methods: Between 2012 and 2018, this single-canter study evaluated 44 pediatric patients with indications for epicardial or endocardial pacemakers. Results: The 2 groups, at a median age of 5 (0.1–16) years, were compared concerning the characteristics of the leads used (n = 80: bipolar, unipolar, steroid-eluting, and non–steroid-eluting), survival data, and complications. The reason for pacemaker implantation was congenital complete heart… More >

  • Open Access


    Higher Child-Reported Internalizing and Parent-Reported Externalizing Behaviors were Associated with Decreased Quality of Life among Pediatric Cardiac Patients Independent of Diagnosis: A Cross-Sectional Mixed-Methods Assessment

    Jacqueline S. Lee1,2, Angelica Blais1,2, Julia Jackson1, Bhavika J. Patel1, Lillian Lai4, Gary Goldfield1,3, Renee Sananes5, Patricia E. Longmuir1,2,3,*

    Congenital Heart Disease, Vol.16, No.3, pp. 255-267, 2021, DOI:10.32604/CHD.2021.014628

    Abstract Background: Pediatric cardiology patients often experience decreased quality of life (QoL) and higher rates of mental illness, particularly with severe disease, but the relationship between them and comparisons across diagnostic groups are limited. This mixed-methods cross-sectional study assessed the association between QoL anxiety and behavior problems among children with structural heart disease, arrhythmia, or other cardiac diagnoses. Methods: Children (6–14 years, n = 76, 50% female) and their parents completed measures of QoL (PedsQL), behavior (BASC-2, subset of 19 children) and anxiety (MASC-2, children 8+ years). Pearson correlations/regression models examined associations between QoL, behavior and anxiety, controlling for age, sex,… More >

  • Open Access


    Lesion-based Patterns of Morbidity and Mortality in Hospitalized Adolescents with Congenital Heart Disease

    Aparna Kulkarni1,*, Richard Neugebauer2, Shelby Kutty3

    Congenital Heart Disease, Vol.16, No.3, pp. 299-307, 2021, DOI:10.32604/CHD.2021.014495

    Abstract Objective: The objective of this analysis is to describe the characteristics and morbidity during hospitalizations among adolescents with congenital heart disease (AdoCHD) from the Pediatric Health Information System (PHIS) database. Methods: The PHIS database was queried for all AdoCHD admissions aged 12–18 years (1/1/2004–12/31/2013). Major forms of CHD were identified by their International Classification of Diseases, ninth revision codes, further verified based on their secondary diagnosis and/or procedure codes. Patient characteristics, diagnoses, procedures and vital status were assessed. Results: In total, there were 4,267 adolescents admitted to 42 Children’s Hospitals, 58.3% were males, 24.6% single ventricle (SV) patients, 64.1% bi-ventricle… More >

  • Open Access


    Acquired Coronary Artery Disease in Patients with Congenital Heart Disease: Issues in Diagnosis and Management

    Sotiria C. Apostolopoulou1,*, Stella Brili2, Eftihia Sbarouni3, Dimitris Tousoulis2, Konstantinos Toutouzas2

    Congenital Heart Disease, Vol.15, No.5, pp. 369-375, 2020, DOI:10.32604/CHD.2020.012092

    Abstract Objective: Acquired coronary artery disease, initially thought to rarely affect survivors of congenital heart disease, is increasingly recognized in this population, as these patients grow in age and numbers in the recent era. This study reports our experience with coronary artery disease in adults with congenital heart disease and discusses treatment issues and the existing literature. Methods: Retrospective review of all charts of adults with congenital heart disease and acquired coronary artery disease was performed. Patients’ clinical characteristics, diagnosis, risk factors, noninvasive and invasive imaging and management data were recorded. Results: Coronary artery disease was diagnosed at 35–70 of age… More >

  • Open Access


    Immunomodulatory miRNAs as Potential Biomarkers for the Postoperative Course Following Surgery for the Repair of Congenital Heart Defects in Children

    Or Bercovich1, Tal Tirosh-Wagner2, Lior Goldberg1, Amir Vardi3, David Mishali4, Gideon Paret1,#, Yael Nevo-Caspi1,*,#

    Congenital Heart Disease, Vol.15, No.4, pp. 239-249, 2020, DOI:10.32604/CHD.2020.011576

    Abstract Objective: To test the hypothesis that circulating miRNAs-146a, -146b, -155, and -21 reflect the inflammatory state of children following heart surgery, and that they may, therefore, correlate with postoperative parameters. We aimed to quantify miRNAs in blood samples from pediatric patients before and 6, 12, and 24 hours after surgery and to evaluate correlations between the miRNA levels and the postoperative course. Setting: PICU. Patients: Forty-two pediatric patients with CHD who underwent cardiac surgery at Safra Children’s Hospital between 2012–2016. Interventions: none. Outcome Measures: The primary outcomes were the postoperative cardiac complications and the secondary outcomes were the length of… More >

  • Open Access


    Use of Implantable Cardioverter-Defibrillators in Congenital Heart Disease and Pediatric Patients: Results from the German National Registry for Congenital Heart Defects

    Coralie Katharina Dicks1, Gerhard-Paul Diller1, Kristina Wasmer2, Paul C. Helm3,4, Ulrike M. M. Bauer3,4, Helmut Baumgartner1, Stefan Orwat1,#, Alicia Jeanette Fischer1,#,*

    Congenital Heart Disease, Vol.15, No.2, pp. 117-125, 2020, DOI:10.32604/CHD.2020.011520

    Abstract Background: Sudden cardiac death is a leading cause of death in patients with congenital heart disease (CHD). Risk stratification for implantable cardioverter defibrillators (ICD) remains difficult due to limited data about use and outcome of device therapy in CHD patients in larger community-based cohorts. Methods and results: Out of a dataset with more than 50,000 patients registered at the German National Register for Congenital Heart Defects, 109 patients (median age 35.5; IQR 23.75–46.00), 68 (62%) male) with an ICD were identified and were retrospectively analyzed. Although the number of implantations increased steadily throughout the investigated time interval from 2001 to… More >

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