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Two Cases of Menkes Disease With Similar Intracranial Arterial Tortuosity on Brain Magnetic Resonance Imaging.
Cureus
November 2024
Department of Radiology, Kyorin University, Faculty of Medicine, Tokyo, JPN.
Menkes disease is an X-linked recessive genetically inherited metabolic disease caused by an ATP7A gene abnormality that gives rise to impaired copper absorption. Copper deficiency causes symptoms such as characteristic abnormalities in the hair and vascular disorders. Brain MRI findings include a high-signal intensity in the temporal lobe white matter on T2-weighted images and delayed myelination.
View Article and Find Full Text PDFAortic and arterial manifestations and clinical features in -related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
J Med Genet
December 2024
Cardiovascular Division, Department of Medicine, Washington University in St Louis School of Medicine, St Louis, Missouri, USA
Background: Pathogenic variants in may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in -related disease but there are limited outcomes data on vascular events in this condition.
Methods: Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic/likely pathogenic (P/LP) variants enrolled in the Montalcino Aortic Consortium registry were reviewed.
Clinical Significance of Coronary Artery Tortuosity in Chronic Coronary Syndrome and Stable Angina: Insights from Gensini Scores.
Turk Kardiyol Dern Ars
December 2024
İstanbul Health and Technology University, Sisli Kolan Hospital, İstanbul, Türkiye.
Objective: This study investigated the clinical significance of coronary artery tortuosity (CAT) in chronic coronary syndrome (CCS) using Gensini scores.
Method: This retrospective single-center study involved 388 patients undergoing coronary angiography for chest pain, excluding those with acute coronary syndromes or prior coronary interventions. Demographic, clinical, and angiographic data were collected and categorized based on the presence or absence of CAT.
Differences in internal carotid artery tortuosity in ruptured and unruptured anterior circulation aneurysms. A matched case-control study.
Neurochirurgie
November 2024
Department of Diagnostic and Interventional Neuroradiology, Hull University Teaching Hospitals, Kingston upon Hull, HU3 2JZ, England, United Kingdom.
Objective: Tortuosity of the internal carotid artery is believed to contribute to the formation of intracranial aneurysms, although there is scant literature on its role as a risk factor for rupture specifically. Therefore, this study investigated the influence of cervical internal carotid artery (cICA) tortuosity on rupture of aneurysms of the anterior cerebral circulation.
Methods: Angiographic imaging studies from patients who underwent endovascular embolisation for anterior circulation aneurysms at a tertiary centre were identified.
Association Between Vertebral Arterial Tortuosity and Aneurysm Growth in Intracranial Vertebral Artery Dissection.
J Clin Neurol
November 2024
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Article Synopsis
- - The study focused on intracranial vertebral artery dissecting aneurysms (iVADAs), which pose a risk for serious complications like subarachnoid hemorrhage, highlighting the importance of identifying risk factors for their growth.
- - Researchers analyzed 124 patients, noting that 43.5% experienced iVADA growth; factors such as being a current smoker and having a higher vertebral artery tortuosity index (VTI) were linked to this growth.
- - The findings indicate that a higher VTI is independently associated with iVADA growth, suggesting that monitoring VTI could be crucial for managing patients with iVADA.
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