Atypical Partial Atrioventricular Septal Defect With Cleft Mitral Valve in a 59-year-old female
Atrioventricular septal defects (AVSD) are a congenital malformation, which comprise 7% of all congenital heart disease, resulting from the incomplete development of the endocardial cushions. A partial AVSD is characterised by separate atrioventricular valves, ostium primum atrial septal defect, a ventricular septal defect, and a cleft mitral valve. (Source: Heart, Lung and Circulation)
Source: Heart, Lung and Circulation - July 1, 2023 Category: Cardiology Authors: J. Iliff Source Type: research

Utility of Screening Fetal Echocardiograms at a  Single Institution Following Normal Obstetric Ultrasound in Fetuses with Down Syndrome
AbstractFetal 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. Retrospective chart review of all fetuses that had a F-echo whose indication was DS between 1/...
Source: Pediatric Cardiology - June 23, 2023 Category: Cardiology Source Type: research

Imaging of a case of atrioventricular septal defect: The added value of using the third dimension in echocardiography
Key Clinical MessageThe role of 3D echocardiography has been increasing in the management of patients with congenital heart disease (CHD), particularly in pre-surgical planning, catheter-guided interventions, and functional assessment of the heart. (Source: Clinical Case Reports)
Source: Clinical Case Reports - June 14, 2023 Category: General Medicine Authors: Mahmoud Abdelnabi, Abdallah Almaghraby, Hoda Abdelgawad Tags: CASE VIDEO Source Type: research

Repair of Truncus Arteriosus and Atrioventricular Septal Defect: a Value of Virtual Reality
(Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - May 31, 2023 Category: Cardiovascular & Thoracic Surgery Authors: Ryan A. Moore, Kevin Kulshrestha, William Burke, Dennis A. Wells, Alan O ’Donnell, Nicholas Szugye, David G. Lehenbauer, David L.S. Morales Source Type: research

Confirmation of Heart Malformations in Fetuses in the First Trimester Using Three-Dimensional Histologic Autopsy
CONCLUSION: After pregnancy termination or loss, histologic 3D imaging can be used to confirm the presence of fetal cardiac malformations detected during first-trimester ultrasound examination. Additionally, this technique has the potential to refine the diagnosis for counseling regarding recurrence risk and retains the advantages of standard histology.PMID:37141594 | DOI:10.1097/AOG.0000000000005169 (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - May 4, 2023 Category: OBGYN Authors: Dan Ruican Ana-Maria Petrescu Anca-Maria Istrate-Ofi ţeru Gabriela Camelia Ro șu George-Lucian Zoril ă Lauren ţiu Mihai Dîră Rodica Daniela Nagy Lauren ţiu Mogoantă Daniel Pirici Dominic Gabriel Iliescu Source Type: research

Confirmation of Heart Malformations in Fetuses in the First Trimester Using Three-Dimensional Histologic Autopsy
CONCLUSION: After pregnancy termination or loss, histologic 3D imaging can be used to confirm the presence of fetal cardiac malformations detected during first-trimester ultrasound examination. Additionally, this technique has the potential to refine the diagnosis for counseling regarding recurrence risk and retains the advantages of standard histology.PMID:37141594 | DOI:10.1097/AOG.0000000000005169 (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - May 4, 2023 Category: OBGYN Authors: Dan Ruican Ana-Maria Petrescu Anca-Maria Istrate-Ofi ţeru Gabriela Camelia Ro șu George-Lucian Zoril ă Lauren ţiu Mihai Dîră Rodica Daniela Nagy Lauren ţiu Mogoantă Daniel Pirici Dominic Gabriel Iliescu Source Type: research

Genes, Vol. 14, Pages 947: Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development
Huey I. Lin Due to the prevalence of congenital heart disease in the human population, determining the role of variants in congenital heart disease (CHD) can give a better understanding of the cause of the disorder. A homozygous missense mutation in the LDL receptor-related protein 1 (Lrp1) in mice was shown to cause congenital heart defects, including atrioventricular septal defect (AVSD) and double outlet right ventricle (DORV). Integrative analysis of publicly available single-cell RNA sequencing (scRNA-seq) datasets and spatial transcriptomics of human and mouse hearts indicated that LRP1 is predominantly expressed...
Source: Genes - April 21, 2023 Category: Genetics & Stem Cells Authors: Angelo B. Arrigo Wenjuan Zhu Kylia A. Williams Carla Guzman-Moreno Cecilia Lo Jiuann-Huey I. Lin Tags: Communication Source Type: research

Palliation of a Heterotaxy Single Ventricle Neonate with Pulmonary Atresia and Obstructed TAPVR
AbstractPatients born with obstructed total anomalous pulmonary venous return have a high risk of morbidity and mortality in the neonatal period, which only increases when combined with single ventricle physiology and non-cardiac congenital anomalies such as heterotaxy syndrome. Despite advances in management of congenital heart disease, surgery within the first weeks of life to repair the pulmonary venous connection and establish pulmonary blood flow with a systemic-to-pulmonary shunt has historically led to disappointing outcomes. A multidisciplinary approach with pediatric interventional cardiology and cardiac surgery i...
Source: Pediatric Cardiology - March 4, 2023 Category: Cardiology Source Type: research

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients
Atrioventricular septal defect (AVSD) is a deleterious subtype of congenital heart diseases (CHD) characterized by atrioventricular canal defect. The pathogenic genetic changes of AVSD remain elusive, particularly for copy number variation (CNV), a large segment variation of the genome, which is one of the major forms of genetic variants resulting in congenital heart diseases. In the present study, we recruited 150 AVSD cases and 100 healthy subjects as controls for whole exome sequencing (WES). We identified total 4255 rare CNVs using exon Hidden Markov model (XHMM) and screened rare CNVs by eliminating common CNVs based ...
Source: Frontiers in Genetics - February 3, 2023 Category: Genetics & Stem Cells Source Type: research

Simplified primum ASD closure technique in complete VSD repair: shallow suture crossing on the AV node
We describe our technical modification to simplify the shallow  suture line only into the endocardium above the atrioventricular node without conduction disturbance. (Source: General Thoracic and Cardiovascular Surgery)
Source: General Thoracic and Cardiovascular Surgery - December 26, 2022 Category: Cardiovascular & Thoracic Surgery Source Type: research

Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting
ConclusionsTo our knowledge, this is the largest cohort study to investigate the incidence of SNVs using ES in foetal CHD. CNV-seq and ES identified genetic abnormalities in nearly 1/3 of foetal CHD cases. Thus, CNV-seq and ES can provide clinically relevant information for pregnancy management. (Source: ESC Heart Failure)
Source: ESC Heart Failure - December 8, 2022 Category: Cardiology Authors: Tong Yi, Xiaoyan Hao, Hairui Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Ying Zhao, Yong Guo, Xiaoxue Zhou, Yihua He Tags: Original Article Source Type: research

Routine Perioperative Esmolol After Infant Tetralogy of Fallot Repair: Single-Center Retrospective Study of Hemodynamics
CONCLUSIONS: In this infant cohort, our experience is that the routine use of postoperative esmolol is associated with good cardiac output with minimal requirement for vasoactive support in most patients. We believe optimal postoperative management of infant TOF repair requires a meticulous multidisciplinary approach, which in our experience is enhanced with routine postoperative esmolol treatment. (Source: Pediatric Critical Care Medicine)
Source: Pediatric Critical Care Medicine - December 1, 2022 Category: Pediatrics Tags: Online Cardiac Intensive Care Source Type: research

Middle to long-term outcomes of surgical repair for atrioventricular septal defect: a single-center study
CONCLUSIONS: Complete AVSD repair increased the risk of early death, severe LAVV regurgitation and re-operation. Pre-operative severe pulmonary hypertension and residual severe LAVV regurgitation indicated high risk for mortality. ≥ Moderate LAVV regurgitation within 24 hours after the first surgery predicted a high probability of LAVV re-operation.PMID:36389321 | PMC:PMC9641329 | DOI:10.21037/jtd-22-790 (Source: Journal of Thoracic Disease)
Source: Journal of Thoracic Disease - November 17, 2022 Category: Respiratory Medicine Authors: Yixuan Cai Renwei Chen Gang Chen Qiqi Shi Yaping Mi Huifeng Zhang Bing Jia Source Type: research