Cardiovascular manifestations of Marfan syndrome are associated with increased mortality, especially in the pediatric population. Early recognition is critical to long-term management. We present two cases of genetically defined "classical" Marfan syndrome presenting with severe infantile aortic root dilatation among siblings and discuss options for therapy.
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http://dx.doi.org/10.1080/08998280.2019.1646594 | DOI Listing |
J Biol Chem
January 2025
Departments of Neurology, University of Michigan, Ann Arbor, MI 48109; Departments of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109; Neurology Service, VA Ann Arbor Healthcare System, Department of Veterans Affairs, Ann Arbor, MI 48105. Electronic address:
Stereotyped mutations in NOTCH3 drive CADASIL, the leading inherited cause of stroke and vascular dementia. The vast majority of these mutations result in alterations in the number of cysteines in the gene product. However, non-cysteine altering pathogenic mutations have also been identified, making it challenging to discriminate pathogenic from benign NOTCH3 sequence variants.
View Article and Find Full Text PDFEur J Vasc Endovasc Surg
January 2025
Universitat Autònoma de Barcelona (UAB), Bellaterra, Spain; Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain; Department of Vascular, Endovascular Surgery and Angiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:
Objective: Abdominal aortic aneurysm (AAA) in a patient with an underlying heritable aortic disease (HAD) is rare, and evidence based recommendations for its management are lacking. This study aimed to generate a consensus from multidisciplinary specialists on the diagnosis, treatment, and surveillance of AAA associated with HAD and to define topics of interest for future research.
Methods: A Delphi consensus was designed involving European multidisciplinary specialists and reported using the ACcurate COnsensus Reporting Document (ACCORD) reporting guideline.
Diagnostics (Basel)
January 2025
Department of Human Science and Promotion of Quality of Life, San Raffaele Open University, 00163 Rome, Italy.
Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS.
View Article and Find Full Text PDFRadiol 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.
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