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Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFVolume-Outcome Relationship of Norwood Procedures: Insights from the National Pediatric Cardiology - Quality Improvement Collaborative Database.
Ann Thorac Surg
January 2025
Division of Cardiothoracic Surgery, University of Utah Health, Salt Lake City, UT. Electronic address:
Background: Prior investigations of the center-specific case volume on outcomes in hypoplastic left heart syndrome have conflicting results. This study utilized the National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) registry to investigate the center volume-outcome relationship in patients following the Norwood procedure with consideration of pre-operative high-risk features.
Methods: Between 2016 and 2023, centers were categorized by Norwood procedure volume into low (≤ 5 cases/year), medium (6 to 10 cases/year), and high-volume centers (> 10 cases/year).
Dominant Occipital Sinus: A Rare Anatomical Variant With Potentially Catastrophic Consequences if Unrecognized Preoperatively.
Cureus
December 2024
Department of Neurosurgery, Southmead Hospital, North Bristol NHS Trust, Bristol, GBR.
The occipital sinus is often thought of as a redundant vestigial structure in adults. However, in rare cases, it can form the dominant route of intracerebral venous drainage, with a risk of significant surgical morbidity if unrecognised. We present an illustrative case describing this anatomical variant and tailoring of a midline suboccipital craniotomy to allow resection of a fourth ventricular epidermoid tumour with preservation of a dominant occipital sinus, and a review of the published literature.
View Article and Find Full Text PDFRadiological insights into fibromuscular dysplasia unveiled by intracranial aneurysms and iliac vein hypoplasia in suspected DVT.
Radiol Case Rep
March 2025
Radiology Department, University Hospital Center of Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr Agadir University, Agadir, Morocco.
Fibromuscular Dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disorder predominantly affecting women aged 18 to 65 years. This case report highlights a 74-year-old female diagnosed with FMD incidentally during evaluation for deep vein thrombosis (DVT). Imaging revealed significant vascular anomalies, including a giant intracranial carotid aneurysm and a hypoplastic iliac vein with extensive collateral formation.
View Article and Find Full Text PDFPrenatal Diagnosis of Berry Syndrome by Fetal Echocardiography.
Ultrasound Q
March 2025
Department of Echocardiography, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Berry syndrome is a rare combination of cardiac malformations, which is characterized by the following malformations, including the aortopulmonary window, aortic right pulmonary origin, interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum. There are few reviews on prenatal diagnosis of Berry syndrome by fetal echocardiography. We used sequential cross-sectional scanning from apex to bottom of the heart to find aortic right pulmonary origin, aortopulmonary window, and hypoplastic aortic arch.
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