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Superficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations.
View Article and Find Full Text PDFFetal cardiac function in pregnancy affected by congenital heart disease: protocol for a multicentre prospective cohort study.
BMC Pregnancy Childbirth
January 2025
Royal Hospital for Women and UNSW, School of Clinical Medicine, Level 0, Royal Hospital for Women, Barker Street (Locked Bag 2000), Sydney, NSW, 2031, Australia.
Background: Congenital heart disease (CHD) is the most common fetal malformation, and it can result first in cardiac remodeling and dysfunction and later in cardiac failure and hydrops. A limited number of studies have evaluated cardiac function in fetuses affected by CHD. Functional parameters could potentially identify fetuses at risk of cardiac failure before its development.
View Article and Find Full Text PDFIncidence and Prognosis of Surgical Heart Block in Patients with L-transposition of the Great Arteries.
Pediatr Cardiol
January 2025
Division of Cardiology, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, USA.
L-transposition of the great arteries (L-TGA) represents a spectrum of congenital heart defects (CHD) associated with atrioventricular block (AVB). However, the incidence and prognosis of postoperative AVB among patients with variants of L-TGA is uncertain. Assess the incidence and risk factors for postoperative AVB requiring permanent pacemaker (PPM) implantation for pediatric patients with L-TGA undergoing cardiac surgery.
View Article and Find Full Text PDFVariability in technical fee billing for cardiac CT across congenital cardiac centers.
J Cardiovasc Comput Tomogr
January 2025
Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, United States; Intermountain Healthcare - Primary Children's Hospital, United States.
Background: Cardiac Computed Tomography (CCT) is increasingly used to provide 2D, 3D and 4D information in patients with congenital heart disease of all ages. Historically, negotiated rates for professional and technical fees associated with cardiac imaging were confidential, with variability in professional, technical and global charges, reimbursement and cost to patients for the same current procedural terminology (CPT) code at different institutions. Billing transparency is a key component of both the CARE act passed in 2020 and the Health Care PRICE Transparency Act 2.
View Article and Find Full Text PDFThe human () gene encodes a plasma membrane protein SLC39A8 (ZIP8) that mediates the specific uptake of the metals Cd, Mn, Zn, Fe, Co, and Se Pathogenic variants within are associated with congenital disorder of glycosylation type 2 (CDG type II) or Leigh-like syndrome. However, numerous mutations of uncertain significance are also linked to different conditions or benign traits. Our study characterized 21 variants and measured their impact on protein localization and intracellular levels of Cd, Zn, and Mn We identified four variants that disrupt protein expression, five variants with high retention in the endoplasmic reticulum, and 12 variants with localization to the plasma membrane.
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