Probably the most important continuing advance in the treatment of congenital heart disease is the ever-diminishing risk of operations on the open heart. The uncomplicated septal defect or valvular stenosis is now corrected under direct vision with essentially the same risk as that which attends the routine operation for patent ductus arteriosus. Perfusion systems, and corrective heart operations, are now available for any patient who weighs 10 kilograms or more; palliative operations are often prescribed for critically ill patients weighing less than 10 kilograms. With respect to the future, successful removal and replantation of the heart in dogs opens the door for imaginative approaches to many states now considered inoperable. Still more inspiring is the realization that cardiac homotransplantation is surgically feasible and immunologically possible, if specific transplantation antigens can be isolated.
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Health Qual Life Outcomes
January 2025
Department of Human Sciences, LUMSA University, Rome, 00193, Italy.
Background: The number of people living with congenital heart disease (CHD) in 2017 was estimated to be 12 million, which was 19% higher than that in 1990. However, their death rate declined by 35%, emphasizing the importance of monitoring their quality of life due to its impact on several patient outcomes. The main objective of this study is to analyze how parents' psychosocial factors contribute to children's and adolescents' perceptions of their QoL, focusing on their medical condition.
View Article and Find Full Text PDFMed Biol Eng Comput
January 2025
Department of Computer Science and Engineering, Shri Shankaracharya Institute of Professional Management and Technology, Raipur, (C.G.), India.
This study presents an advanced methodology for 3D heart reconstruction using a combination of deep learning models and computational techniques, addressing critical challenges in cardiac modeling and segmentation. A multi-dataset approach was employed, including data from the UK Biobank, MICCAI Multi-Modality Whole Heart Segmentation (MM-WHS) challenge, and clinical datasets of congenital heart disease. Preprocessing steps involved segmentation, intensity normalization, and mesh generation, while the reconstruction was performed using a blend of statistical shape modeling (SSM), graph convolutional networks (GCNs), and progressive GANs.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Pediatrics, The University of Tennessee Health Science Center, Memphis, Tennessee, USA.
A term, healthy infant presented with respiratory distress and severe pulmonary hypertension (PH). With an unclear aetiology and the intent to decrease right ventricular afterload, pulmonary vasodilators were initiated. Follow-up imaging revealed a supravalvular mitral ring as the cause of the PH which resolved after surgical resection of the membrane.
View Article and Find Full Text PDFAm J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFJ Vet Cardiol
December 2024
Langford Vets Small Animal Referral Hospital, University of Bristol, Langford, Bristol, BS40 5DU, United Kingdom; Eastcott Referrals, Edison Park, Swindon, SN3 3FR, United Kingdom.
Introduction: Severity of aortic stenosis (AS) in humans is classified using a staging system based on two-dimensional echocardiographic changes, which considers the extent of global cardiac damage. Currently, classification of canine AS is based on trans-aortic pressure gradient (PG) alone. This study aimed to retrospectively classify dogs with AS based on an adapted human staging system, exploring feasibility of classification and the association between stage and features such as PG and clinical signs.
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