keyword
https://read.qxmd.com/read/38497783/eliminating-first-trimester-combined-testing-consequences-for-early-detection-of-significant-fetal-anomalies
#1
JOURNAL ARTICLE
M A Lugthart, H Heinrich, I Ertugrul, E N Nsiah-Asare, K van de Kamp, I H Linskens, M C van Maarle, E van Leeuwen, E Pajkrt
OBJECTIVE: To determine whether implementation of cell-free DNA (cfDNA) testing for aneuploidy as a first-tier test and subsequent abolition of first trimester combined testing (FCT) affected the first trimester detection (<14 weeks) of certain fetal anomalies. METHODS: We performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected severe brain, abdominal wall and congenital heart defects...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38371147/role-of-ecg-in-the-accidental-finding-of-an-atrioventricular-septal-defect-in-an-asymptomatic-patient-undergoing-cosmetic-surgery
#2
Pramod Bhattarai, Monika Karki
Electrocardiogram (ECG) is an important diagnostic tool in identifying congenital heart disease (CHD), as demonstrated by this case of a 48-year-old female who presented for a preoperative evaluation for cosmetic surgery. ECG showed a right bundle branch block (RBBB) and first-degree atrioventricular (AV) block, and further testing revealed a primum atrial septal defect (ASD) with mitral valve anterior leaflet cleft and a membranous ventricular septal defect (VSD). She underwent successful surgical repair and was discharged home without complications...
January 2024: Curēus
https://read.qxmd.com/read/38362713/efficacy-of-atrioventricular-valve-regurgitation-in-the-first-trimester-for-the-diagnosis-of-atrioventricular-septal-defect
#3
JOURNAL ARTICLE
Shuihua Yang, Mengfeng Liang, Guican Qin, Yanni Tang, Yan Liang, Yulan Pang, Zuojian Yang
PURPOSE: To investigate the efficacy of atrioventricular valve regurgitation (AVVR) for predicting atrioventricular septal defect (AVSD) in the first trimester. METHODS: We performed a prospective observational study, screening for complicated congenital heart diseases and AVVR in fetuses at 11 to 13+6 weeks of gestation by advanced dynamic flow in four-chamber view and three-vessel-trachea view. RESULTS: 43 549 fetuses at 11 to 13+6 weeks of gestation were screened by echocardiography, of which 37 cases were diagnosed with AVSD, including complete AVSD (31 cases), intermediate AVSD (3 cases) and partial AVSD (1 cases), undiagnosed intermediate AVSD (2 cases), and misdiagnosed case (2 cases)...
February 16, 2024: Journal of Clinical Ultrasound: JCU
https://read.qxmd.com/read/38323184/application-of-neural-networks-in-prenatal-diagnosis-of-atrioventricular-septal-defect
#4
JOURNAL ARTICLE
Xiaoxue Zhou, Tingyang Yang, Yanping Ruan, Ye Zhang, Xiaowei Liu, Ying Zhao, Xiaoyan Gu, Xinxin Xu, Jiancheng Han, Yihua He
BACKGROUND: There is no relevant study on landmarks detection, one of the Convolutional Neural Network algorithms, in the field of fetal echocardiography (FE). This study aimed to explore whether automatic landmarks detection could be used in FE correctly and whether the atrial length (AL) to ventricular length (VL) ratio (AVLR) could be used to diagnose atrioventricular septal defect (AVSD) prenatally. METHODS: This was an observational study. Two hundred and seventy-eight four-chamber views in end diastole, divided into the normal, AVSD, and differential diagnosis groups, were retrospectively included in this study...
January 29, 2024: Translational Pediatrics
https://read.qxmd.com/read/38197584/interaction-between-clinicians-and-artificial-intelligence-to-detect-fetal-atrioventricular-septal-defects-on-ultrasound-how-can-we-optimize-collaborative-performance
#5
JOURNAL ARTICLE
T G Day, J Matthew, S F Budd, L Venturini, R Wright, A Farruggia, T V Vigneswaran, V Zidere, J V Hajnal, R Razavi, J M Simpson, B Kainz
OBJECTIVES: Artificial intelligence (AI) has shown promise in improving the performance of fetal ultrasound screening in detecting congenital heart disease (CHD). The effect of giving AI advice to human operators has not been studied in this context. Giving additional information about AI model workings, such as confidence scores for AI predictions, may be a way of improving performance further. Our aims were to investigate whether AI advice improved overall diagnostic accuracy (using a single CHD lesion as an exemplar), and to see what, if any, additional information given to clinicians optimized the overall performance of the clinician-AI team...
January 10, 2024: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/38134423/multicentre-study-on-late-outcomes-of-biventricular-repair-of-double-outlet-right-ventricle
#6
MULTICENTER STUDY
François Lacour-Gayet, Joy Zoghbi, Marielle Gouton, Régine Roussin, Olivier Bical, Vincent Lucet, Marion Saint-Pick, Francine Leca
OBJECTIVES: The goal of this retrospective multicentre study was to present late surgical outcomes of the treatment of children with double outlet right ventricle (DORV) coming from emerging countries. METHODS: The Mécénat Chirurgie Cardiaque brings to France for surgery selected children with simple and complex congenital diseases, including DORV. The patients are operated on in 9 hospitals that specialize in paediatric cardiac surgery. Data are collected from the Mécénat Chirurgie Cardiaque comprehensive database, with a strict postoperative follow-up...
January 2, 2024: European Journal of Cardio-thoracic Surgery
https://read.qxmd.com/read/38054085/noncardiac-anomalies-in-children-with-congenital-heart-disease
#7
JOURNAL ARTICLE
Xianghui Huang, Yuan Gao, Weicheng Chen, Wei Sheng, Guoying Huang
INTRODUCTION: Noncardiac anomalies (NCAs) in patients with congenital heart defects (CHDs) are crucial for perioperative management and etiology studies. This study aimed to investigate NCAs in Chinese children with CHDs. METHODS: Medical records for CHD-diagnosed children hospitalized from 1 January 2015 to 31 December 2019 were collected and subjected to retrospective analyses to excavate potential association rules between CHDs and noncardiac malformations. RESULTS: A total of 3,788 CHD patients were included in this study...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/38012400/long-term-results-following-combined-repair-of-atrioventricular-septal-defect-with-tetralogy-of-fallot
#8
JOURNAL ARTICLE
Katja Schumacher, Mateo Marin-Cuartas, Sabine Meier, Muhammad Ikbal Aydin, Michael A Borger, Ingo Dähnert, Martin Kostelka, Marcel Vollroth
Atrioventricular septal defect (AVSD) in association with tetralogy of Fallot (TOF) is a rare and complex congenital cardiac malformation. We report our institutional experience and outcomes following surgical correction over a 20-year period. Patients who underwent combined surgical AVSD and TOF correction between October 2001 and February 2020 were included for analysis. All patients underwent primary repair. The study data were prospectively collected and retrospectively analyzed. Primary outcomes were in-hospital mortality and long-term freedom from reoperation...
November 27, 2023: Pediatric Cardiology
https://read.qxmd.com/read/37846269/early-and-mid-term-outcomes-of-primary-repair-after-atrioventricular-canal-defect-a-single-center-eight-year-experience
#9
JOURNAL ARTICLE
Rupesh Kumar, Vikram Halder, Soumitra Ghosh, Shyam Thingnam, Harkant Singh, Anand K Mishra, Sachin Mahajan, Pankaj Aggarwal, Aduri Raja S Dutta, Amit Mishra
BACKGROUND/AIM: Surgical repair techniques and management of patients with atrioventricular septal defect (AVSD) have progressed over the last few decades. Early and definitive interventions have become the choice of treatment for these patients. Based on this background, we aimed to review the early and mid-term outcomes of primary AVSD repair. METHODS: A total of 53 patients with a mean age of 3.45 ± 5.67 years underwent definitive repair for AVSD between January 2014 and June 2021...
September 2023: Curēus
https://read.qxmd.com/read/37794522/redo-mitral-valve-replacement-in-an-adult-with-severe-pulmonary-hypertension-resulting-from-structural-valve-deterioration-and-left-ventricular-outflow-tract-obstruction-and-a-history-of-atrioventricular-septal-defect-repair-a-case-report
#10
JOURNAL ARTICLE
Kayo Sugiyama, Katsuhiko Matsuyama, Hitoshi Ogino
BACKGROUND: Pulmonary hypertension (PH)-associated with left heart disease (Nice PH classification group II) improves when the latter is treated; however, the treatment of PH concomitant with group I PH due to congenital heart disease is difficult, and the optimal pharmacotherapy is controversial. Intervention strategies for the left-sided atrioventricular valve in partial atrioventricular septal defect (AVSD) are problematic. CASE PRESENTATION: A 37-year-old woman who had undergone patch closure for a partial AVSD and mitral valve replacement with a rather large bioprosthesis at the juxta-annular position for mitral regurgitation 12 years earlier was referred to our institute because of severe PH...
October 5, 2023: Journal of Cardiothoracic Surgery
https://read.qxmd.com/read/37713667/atrioventricular-septal-defect-with-tetralogy-of-fallot-and-exclusive-shunting-at-the-ventricular-level
#11
JOURNAL ARTICLE
Mani Ram Krishna, Vijaykumar Raju, Robert H Anderson
Atrioventricular septal defect (AVSD) with shunting restricted to the ventricular level is a rare form of AVSD. To our knowledge, this shunting pattern has not been reported in AVSD with tetralogy of Fallot. We report a child with this unusual combination who underwent a successful single-stage repair at two years of age.
September 15, 2023: World Journal for Pediatric & Congenital Heart Surgery
https://read.qxmd.com/read/37695311/catheter-ablation-of-atrial-tachyarrhythmias-in-patients-with-atrioventricular-septal-defect
#12
JOURNAL ARTICLE
Victor Waldmann, Francis Bessière, Kevin Gardey, Sébastien Hascoët, Roland Henaine, Laurence Iserin, Magalie Ladouceur, Damien Bonnet, Eloi Marijon, Alice Maltret, Nicolas Combes, Natasja de Groot
BACKGROUND AND AIMS: The incidence of atrial tachyarrhythmias is high in patients with atrioventricular septal defect (AVSD). No specific data on catheter ablation have been reported so far in this population. We aimed to describe the main mechanisms of atrial tachyarrhythmias in patients AVSD and to analyze outcomes after catheter ablation. METHODS: This observational multicentric cohort study enrolled all patients with AVSD referred for catheter ablation of an atrial tachyarrhythmia at 6 tertiary centers from 2004 to 2022...
September 11, 2023: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://read.qxmd.com/read/37612667/long-term-results-following-atrioventricular-septal-defect-repair
#13
JOURNAL ARTICLE
Katja Schumacher, Mateo Marin Cuartas, Sabine Meier, Muhammed Ikbal Aydin, Michael Andrew Borger, Ingo Dähnert, Martin Kostelka, Marcel Vollroth
BACKGROUND: Atrioventricular septal defects (AVSD) represent 4-7% of congenital cardiac malformations. Definitive early repair is favored over prior pulmonary artery banding and delayed definitive repair in many centers. The aim of this study was to analyze long-term outcomes following AVSD repair over a 21-year period. METHODS: A total of 202 consecutive patients underwent surgical AVSD correction between June 1999 and December 2020. Surgery was performed using the double-patch technique...
August 23, 2023: Journal of Cardiothoracic Surgery
https://read.qxmd.com/read/37485264/characterization-of-ultrasound-and-postnatal-pathology-in-fetuses-with-heterotaxy-syndrome
#14
JOURNAL ARTICLE
Qiumei Wu, Shan Guo, Biying Huang, Wen Ling, Longzhuang Peng, Hong Ma, Fa Chen, Guorong Lyu, Min Liu, Xiuqing Qiu, Zongjie Weng
BACKGROUND: To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification. METHODS: The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as left isomerism (LI) and right isomerism (RI). Prenatal ultrasound compared with the anatomical casting of the fetal body after labor induction, and the confirmatory postnatal diagnosis after delivery. RESULTS: Fetal LI showed typical malformations of gastric vesicles on different sides from the heart, absence of hepatic segment of the inferior vena cava (IVC), abdominal aorta (AO) parallel with the azygos vein (AV), bilateral left bronchus, bilateral left atrial appendages, and polysplenia; intracardiac malformations of AV septal defects (AVSD), single atrium (SA), left ventricular outflow tract obstruction (LVOTO), and double-outlet right ventricle (DORV); and cardiac conduction abnormalities of sinus bradycardia and AV blockage...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/37449900/biventricular-repair-using-subvalvular-techniques-for-unbalanced-atrioventricular-septal-defect
#15
JOURNAL ARTICLE
Gen Shinohara, Shinichiro Oda, Satoshi Fujita, Akira Shiose
We report the case of a 19-month-old girl with a right-dominant unbalanced atrioventricular septal defect and severe right-sided atrioventricular valve regurgitation who underwent biventricular repair using basal chordae resection, artificial chordae reconstruction, and a left-sided atrioventricular valvuloplasty. At 14 months postoperative follow-up, the patient had minimal heart failure, gained weight, and adapted to biventricular circulation.
July 14, 2023: Interdiscip Cardiovasc Thorac Surg
https://read.qxmd.com/read/37425447/the-impact-of-surgical-repair-on-left-ventricular-outflow-tract-in-atrioventricular-septal-defect-with-common-atrioventricular-valve-orifice
#16
JOURNAL ARTICLE
Ashwini Chandiramani, Vivian Bader, Emma Finlay, Stuart Lilley, David Young, Ed Peng
OBJECTIVE: Although a narrow left ventricular outflow tract in atrioventricular septal defect is related to its intrinsic morphology, the contribution from the repair technique remains to be quantified. METHODS: A total of 108 patients with an atrioventricular septal defect with a common atrioventricular valve orifice were divided into 2 groups: 2-patch (N = 67) and modified 1-patch (N = 41) repair. The left ventricular outflow tract morphometric was analyzed by quantifying the degree of disproportion between subaortic and aortic annular dimensions (disproportionate morphometrics ratio was defined as ≤ 0...
June 2023: JTCVS open
https://read.qxmd.com/read/37351603/utility-of-screening-fetal-echocardiograms-at-a%C3%A2-single-institution-following-normal-obstetric-ultrasound-in-fetuses-with-down-syndrome
#17
JOURNAL ARTICLE
Kacy Taylor, Casey Lovelace, Bernadette Richards, Stephanie Tseng, Oluseyi Ogunleye, Clifford L Cua
Fetal echocardiograms (F-echo) are recommended in all pregnancies when the fetus has Down syndrome (DS) even if there was a prior obstetric scan (OB-scan) that was normal. The utility of a screening F-echo in this high-risk population when an OB-scan is normal is unknown. Goal of this study was to evaluate if any diagnosis of a critical congenital heart disease (CHD) was missed in a fetus with DS who had a normal OB-scan. Secondary goal was to determine if any CHD was missed postnatally when an OB-scan was read as normal...
June 23, 2023: Pediatric Cardiology
https://read.qxmd.com/read/37293289/the-implication-of-chromosomal-abnormalities-in-the-surgical-outcomes-of-chinese-pediatric-patients-with-congenital-heart-disease
#18
JOURNAL ARTICLE
Xiafeng Yu, Yu Tao, Xu Liu, Feng Yu, Chuan Jiang, Yingying Xiao, Haibo Zhang, Yongrui He, Lincai Ye, Ying Wang, Chunxia Zhou, Jian Wang, Zhengwen Jiang, Haifa Hong
BACKGROUND: Copy number variations (CNVs) have been shown to be overrepresented in children with congenital heart disease (CHD). Genetic evaluation of CHD is currently underperformed in China. We sought to determine the occurrence of CNVs in CNV regions with disease-causing potential among a large cohort of Chinese pediatric CHD patients and investigate whether these CNVs could be the important critical modifiers of surgical intervention. METHODS: CNVs screenings were performed in 1,762 Chinese children who underwent at least one cardiac surgery...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/37189594/diagnostic-value-of-chromosomal-microarray-analysis-for-fetal-congenital-heart-defects-with-different-cardiac-phenotypes-and-extracardiac-abnormalities
#19
JOURNAL ARTICLE
Simin Zhang, Jingjing Wang, Yan Pei, Jijing Han, Xiaowei Xiong, Yani Yan, Juan Zhang, Yan Liu, Fangfei Su, Jinyu Xu, Qingqing Wu
(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We collected fetuses diagnosed with CHDs by echocardiography at our hospital from January 2012 to December 2021. We analyzed the CMA results of 427 fetuses with CHDs. We then categorized the CHD into different groups according to two dimensions: different cardiac phenotypes and whether it was combined with ECAs...
April 20, 2023: Diagnostics
https://read.qxmd.com/read/37188453/molecular-cytogenetic-characterization-of-del-x-p22-33-mat-and-de-novo-dup-4-q34-3q35-2-in-a-male-fetus-with-multiple-anomalies-of-facial-dysmorphism-ventriculomegaly-congenital-heart-defects-short-long-bones-and-clinodactyly
#20
Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of del(X) (p22.33)mat and de novo dup(4) (q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly. CASE REPORT: A 36-year-old, gravida 3, para 1, woman with short stature (152 cm) underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,Y,del(X)(p22...
May 2023: Taiwanese Journal of Obstetrics & Gynecology
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