Cherith Somerville^1,2, Kelsey Kalbfleisch^1,2, Roozbeh Manshaei^1,2, Qiliang Ding^1,2, John B.A. Okello^1,2,3, Rachel Silver⁴, David Chitayat^2,4, Varsha Thakur⁵, Olivier Villemain^5,6,7, Rebekah Jobling^1,2,8,*

Congenital Heart Disease, Vol.18, No.2, pp. 213-218, 2023, DOI:10.32604/chd.2023.023042

Abstract We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in PLD1. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child. Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling. This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype. More >

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 >

Yunyoung Nam¹, Seong Jun Choi², Jihwan Shin¹, Jinseok Lee^3,*

Computer Systems Science and Engineering, Vol.46, No.2, pp. 1521-1532, 2023, DOI:10.32604/csse.2023.034192

Abstract An otoscope is traditionally used to examine the eardrum and ear canal. A diagnosis of otitis media (OM) relies on the experience of clinicians. If an examiner lacks experience, the examination may be difficult and time-consuming. This paper presents an ear disease classification method using middle ear images based on a convolutional neural network (CNN). Especially the segmentation and classification networks are used to classify an otoscopic image into six classes: normal, acute otitis media (AOM), otitis media with effusion (OME), chronic otitis media (COM), congenital cholesteatoma (CC) and traumatic perforations (TMPs). The Mask R-CNN is utilized for the segmentation… More >

Weimin Zhang, Zheng Liu, Tao Zhu, Qiang Huo^*

Congenital Heart Disease, Vol.18, No.1, pp. 73-78, 2023, DOI:10.32604/chd.2023.026404

Abstract Pentalogy of Cantrell is a congenital anomaly characterized by a combination of birth defects involving the sternum, diaphragm, pericardium, abdominal wall, and heart. Pentalogy of Cantrell is a rare anomaly with high mortality. This paper describes the treatment of a 9-month-old girl with pentalogy of Cantrell, pentalogy of Fallot, and left ventricular diverticulum. The patient is alive and well 13 years after surgery. 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

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, Vol.18, No.1, pp. 79-95, 2023, 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 >

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