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Objectives: Bicuspid aortic valve (BAV) aortopathy is defined by 3 phenotypes-root, ascending, and diffuse-based on region of maximal aortic dilation. We sought to determine the association between aortic mechanical behavior and aortopathy phenotype versus other clinical variables.
Methods: From August 1, 2016, to March 1, 2023, 375 aortic specimens were collected from 105 patients undergoing elective ascending aortic aneurysm repair for BAV aortopathy. Planar biaxial data (191 specimens) informed constitutive descriptors of the arterial wall that were combined with in vivo geometry and hemodynamics to predict stiffness, stress, and energy density under physiologic loads. Uniaxial testing (184 specimens) evaluated failure stretch and failure Cauchy stress. Boosting regression was implemented to model the association between clinical variables and mechanical metrics.
Results: There were no significant differences in mechanical metrics between the root phenotype (N = 33, 31%) and ascending/diffuse phenotypes (N = 72, 69%). Biaxial testing demonstrated older age was associated with increased circumferential stiffness, decreased stress, and decreased energy density. On uniaxial testing, longitudinally versus circumferentially oriented specimens failed at significantly lower Cauchy stress (50th [15th, 85th percentiles]: 1.0 [0.7, 1.6] MPa vs 1.9 [1.3, 3.1] MPa; P < .001). Age was associated with decreased failure stretch and stress. Elongated ascending aortas were also associated with decreased failure stress.
Conclusions: Aortic mechanical function under physiologic and failure conditions in BAV aortopathy is robustly associated with age and poorly associated with aortopathy phenotype. Data suggesting that the root phenotype of BAV aortopathy portends worse outcomes are unlikely to be related to aberrant, phenotype-specific tissue mechanics.
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http://dx.doi.org/10.1016/j.jtcvs.2023.12.018 | DOI Listing |
Cardiovasc Res
July 2025
University/BHF Centre for Cardiovascular Science, The Queen's Medical Research Institute, The University of Edinburgh, 47 Little France Crescent, Edinburgh EH16 4TJ, UK.
Aims: Vascular calcification is the abnormal deposition of calcium phosphates within blood vessels. This condition is significantly associated with the development of cardiovascular disease, yet the underlying mechanisms remain largely unknown. MicroRNAs (miRNAs) may be crucial in initiating vascular calcification by regulating a network of specific cellular targets.
View Article and Find Full Text PDFJACC Adv
August 2025
Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, Texas, USA. Electronic address:
Thoracic aortic aneurysms predisposing to aortic dissections are rare but potentially deadly conditions that can be inherited in families. Understanding the natural history and genetic causes of thoracic aortic disease (TAD) requires international collaboration. The aim of this project is to provide core data elements that can be assessed directly and summarized efficiently in research records while developing standards to harmonize data across registries and clinical trials.
View Article and Find Full Text PDFFront Cardiovasc Med
July 2025
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Mitochondrial diseases (MD) represent a group of rare disease with an estimated prevalence of 5-12 per 100,000 individuals, with a prevalence at birth of 1:5,000 and with childhood-onset of 5-15 per 10,000. They are characterized by a multisystemic phenotype with neurodegenerative, neuromuscular, ophthalmological, endocrinological, gastroenterological and cardiac manifestations. MD can present as a systemic disease or with single organ involvement.
View Article and Find Full Text PDFClin Dysmorphol
October 2025
All Wales Medical Genomics Service, Cardiff & Vale University Health Board, Wales Genomic Health Centre, Cardiff, UK.
Am J Med Genet A
July 2025
Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.
Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy with a cardiovascular phenotype of vascular tortuosity, elongation, dilation, and stenosis. In 14 patients with ATS, aortic and pulmonary artery longitudinal growth, phenotypes, and interventions were evaluated. Medical records and images of 14 patients with ATS (defined as biallelic SLC2A10 variants with consistent phenotypes) were reviewed.
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