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Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.
Eur J Hum Genet
December 2024
National EDS Service, London North West University Healthcare NHS Trust, London, UK.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.
View Article and Find Full Text PDFThe Safety and Late Hemodynamics of Donor Cardiac Undersizing in Heart Transplantation.
Ann Thorac Surg
December 2024
Department of Cardiac Surgery, Vanderbilt University Medical Center, Nashville Tennessee.
Background: Predicted heart mass ratio (PHMr) has become the standard donor-recipient size matching method in heart transplantation. While utilization of small PHMr hearts is associated with increased one-year mortality, the underlying mechanisms and time horizon of mortality remain uncertain.
Methods: A single institution analysis of isolated heart transplant recipients (01/2019-7/2022) was performed (N=334).
The Relationship Between Maternal Exposure to Endocrine-Disrupting Chemicals and the Incidence of Congenital Heart Diseases: A Systematic Review and Meta-Analysis.
Metabolites
December 2024
Department of Family and Community Medicine and Medical Education, College of Medicine, Taibah University, Madinah 42353, Saudi Arabia.
Background: Congenital heart diseases are among the most common birth defects, significantly impacting infant health. Recent evidence suggests that exposure to endocrine-disrupting chemicals may contribute to the incidence of congenital heart diseases. This study systematically reviews and analyzes the association between maternal endocrine-disrupting chemicals exposure and congenital heart diseases.
View Article and Find Full Text PDFUnifocalization of Major Aortopulmonary Collateral Arteries (MAPCAs) and Native Pulmonary Arteries in Infancy-Application of 3D Printing and Virtual Reality.
J Cardiovasc Dev Dis
December 2024
Department of Anesthesiology, University Children's Hospital, 30-663 Krakow, Poland.
Background: Major aortopulmonary collateral arteries (MAPCAs) are rare remnants of pulmonary circulation embryological development usually associated with complex congenital anomalies of the right ventricular outflow tract and pulmonary arteries. Effective management requires surgical unifocalization of MAPCAs and native pulmonary arteries (NPAs). Traditional imaging may lack the spatial clarity needed for precise surgical planning.
View Article and Find Full Text PDFFive-Year Comparison Results Between Clinically Severely Affected Tetralogy-of-Fallot Patients Initially Treated by Right Ventricular Outflow Stenting and Pink-Fallot Patients Undergoing Single-Step Correction.
J Cardiovasc Dev Dis
December 2024
Laboratory of X-Ray Endovascular and Reconstructive Cardiovascular Surgery, Department of Cardiovascular Surgery, Federal State Budgetary Institution "Research Institute for Complex Issues of Cardiovascular Diseases", Blvd. Named After Academician L.S. Barbarasha, 6, 650002 Kemerovo, Russia.
The Purpose: Evaluation of the short-term and long-term results of a phased correction of the tetralogy of Fallot (ToF) with stenting of the right ventricular outflow tract (RVOT) in comparison with a one-stage total correction (TC) of the defect.
Materials And Methods: Two groups of patients with classical ToF were formed. Group 1 (n = 25; median age = 72 days) was initially represented by children with ToF with a more severe clinical status (median weight = 3.
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