DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood by Adrian Zammit, Deborah Grech Marguerat, Josephine Psaila, Alexander Attard

“…The resulting learning difficulties, congenital heart disease, palatal abnormalities, hypoplasia/aplasia of the parathyroid and thymus glands, and immune deficiency generally lead to diagnosis in childhood. …”
Get full text

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm by Kristi K. Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, Christian Pizarro

“…This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.…”
Get full text

A Case of the TOF with APV Complicated with Polyhydramnios and Severe Bronchomalacia by Ali Seven, Emine Esin Yalinbas, Rahmi Ozdemir

“…Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease with severe pulmonary insufficiency, characterized with aneurysmal dilation in the pulmonary artery and one or both of its branches. …”
Get full text

Congenital Corrected Transposition of Great Arteries in Adults with Varied Presentation by Akshay Narendra Kotasthane, Susheel K. Malani, Chigullapalli Sridevi, Digvijay D Nalawade

“…Congenital corrected transportation of great arteries (ccTGA) is a rare congenital heart disease, accounting for < 1% of congenital heart diseases. …”
Get full text

Immune Dysregulation after Cardiothoracic Surgery and Incidental Thymectomy: Maintenance of Regulatory T Cells despite Impaired Thymopoiesis by Nancy J. Halnon, Paige Cooper, Diana Yu Hui Chen, M. Ines Boechat, Christel H. Uittenbogaart

“…Questionnaires soliciting symptoms of atopic or autoimmune disease and biomarkers were measured in children and adults with congenital heart disease and either reduced or preserved thymopoiesis. …”
Get full text

Left Main Coronary Artery Compression following Melody Pulmonary Valve Implantation: Use of Impella Support as Rescue Therapy and Perioperative Challenges with ECMO by Erica D. Wittwer, Juan N. Pulido, Shane M. Gillespie, Frank Cetta, Joseph A. Dearani

“…The purpose of this case is to describe the complex perioperative management of a 30-year-old woman with congenital heart disease and multiple resternotomies presenting with pulmonary homograft dysfunction and evaluation for percutaneous pulmonary valve replacement. …”
Get full text

Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report by Thi Ha Vu, Thi Hai Hoang, Thi Sim Nguyen, Khanh Dung Ho, Thi Kim Phuong Doan

“… Congenital heart disease (CHD) is a complex condition affecting the heart’s structure and function, leading to serious health problems. …”
Get full text

A Rare Manifestation of Asymptomatic Ebstein’s Anomaly with Tricuspid Valve Endocarditis by Carmel Moazez, Vicken Zeitjian, Christian Breburda, Ranjini Roy

“…Ebstein’s anomaly is a rare congenital heart disease that presents with apical displacement of the septal and posterior leaflets of the tricuspid valve. …”
Get full text

Utility of Pulmonary Angiography by 128-Slice Computed Tomographic Scanner in Diagnosis of Tetralogy of Fallot Cases by Abhishek Dwivedi, Ankur Sharma, Rachit Sharma, Prateek Awasthi, Satveer Singh Choudhary

“…Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. …”
Get full text

Sclerema Neonatorum in a Term Infant: A Case Report and Literature Review by Gloria Nakalema, Walufu Ivan Egesa, Patrick Kumbowi Kumbakulu, Martin Nduwimana, Amnia Diaz Anaya, Mirembe Stephen Kizito, Daniel Kavuma

“…This condition is peculiar to preterm neonates, especially those with comorbidities such as sepsis, congenital anomalies, congenital heart disease, and gastrointestinal and respiratory diseases. …”
Get full text

Respiratory Syncytial Virus Infections in Infants Affected by Primary Immunodeficiency by Marcello Lanari, Silvia Vandini, Maria Grazia Capretti, Tiziana Lazzarotto, Giacomo Faldella

“…Prophylaxis with palivizumab, a humanized monoclonal antibody against the RSV F protein, is currently recommended in high-risk infants born prematurely, with chronic lung disease or congenital heart disease. Currently however the prophylaxis is not routinely recommended in infants with primary immunodeficiency, although some authors propose the extension of prophylaxis to this high risk population.…”
Get full text

Effectiveness of Three-dimensional Cardiac Computed Tomography Scan in Congenital Heart Surgery–An Impact on Diagnostic Performance and Surgical Management by Alok Kumar, Monalisha Ganguly, B Dhanalakshmi, Ritwik Chakrabarti, Arvind Mishra, Nikhil Tiwari

“…Background: Recent advances in gated cardiac contrast-enhanced computed tomography (CECT) with anesthesia support, enhance the imaging performance in congenital heart disease (CHD). 3D reconstruction of the CECT image is a novel modality that could help manage pediatric cardiac patients. …”
Get full text

Mesenchymal Stem/Stromal Cells from Discarded Neonatal Sternal Tissue: In Vitro Characterization and Angiogenic Properties by Shuyun Wang, Lakshmi Mundada, Eric Colomb, Richard G. Ohye, Ming-Sing Si

“…A significant number of newborns and infants with critical congenital heart disease who undergo cardiac surgery already have or are at risk of developing conditions related to inadequate tissue perfusion. …”
Get full text

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

“…Many of our patient’s features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. …”
Get full text

Role of Pulse Oximetry Screening for Detection of Life Threatening Congenital Heart Detects in Newborn by Aso Faeq Salih, Adnan Mohammed Hamawand, Riyadh Abd Aljabbar Sattar

“…Pulse oximetry screening is significantly improving the detection of life threatening congenital heart disease at an early stage. …”
Get full text

Neonatal Surgery Intensive Care Unit: Hacettepe University Experience by Umit Ayse Tandircioglu, Hasan Tolga Celik, Sule Yigit, Murat Yurdakok

“…Two hundred and four patients were hospitalized due to congenital heart disease. Two hundred patients were operated on by pediatric surgeons whereas 142 were operated on by other surgery specialists. …”
Get full text

Structural alterations of the thymus in high-risk fetuses and their relationship with obstetric conditions and fetal congenital defects by Lisset Ley Vega, Yanna Chao Martínez, Aimé Rosario Benítez Molina, Jesús Arturo Satorre Ygualada, Fidel Ernesto Pérez Marrero, Mery Karla Satorre Ley

“…Results: the predominant risk factor was the image of suspected fetal congenital heart disease on screening ultrasound (36.65%). …”
Get full text

4D foetal cardiac ultrasound image detection based on deep learning with weakly supervised localisation for rapid diagnosis of evolving hypoplastic left heart syndrome by Gang Wang, Weisheng Li, Mingliang Zhou, Haobo Zhu, Guang Yang, Choon Hwai Yap

“…Abstract Hypoplastic left heart syndrome (HLHS) is a rare, complex, and incredibly foetal congenital heart disease. To decrease neonatal mortality, evolving HLHS (eHLHS) in pregnant women should be critically diagnosed as soon as possible. …”
Get full text

Evaluation of Atrioventricular Valve Regurgitation in Detection of Atrioventricular Septal Defects at First Trimester Ultrasound by Zhen Guo, Yang Yan, Yang Zhili, Xiao Juhua, Xiao Xiaojuan, Chen Jia, Luo Haiyan, Zhou Xin

“…Over three years, 452 fetuses were diagnosed with congenital heart disease in the first trimester, including 25 cases of AVSD (21 complete, 1 partial, and 3 intermediate). …”
Get full text

Virtual 3D reconstruction of complex congenital cardiac anatomy from 3D rotational angiography by Ernesto Mejia, Shannon Sweeney, Jenny E. Zablah

“…We examined the feasibility and accuracy of utilizing an automated, Artificial Intelligence (AI) driven, cloud-based platform for virtual 3D visualization of complex congenital heart disease obtained from 3D rotational angiography DICOM images. …”
Get full text