Aortic diseases, including thoracic and abdominal aneurysms as well as aortic dissections, represent life-threatening vascular disorders characterized by progressive wall degeneration and inflammation. Increasing evidence indicates that oxidative stress is a central driver of aortic pathology through the induction of DNA damage in vascular smooth muscle cells and endothelial cells. Oxidative DNA lesions activate the DNA damage response (DDR), a highly coordinated network of damage sensors, signaling kinases, and repair effectors that determines cell fate decisions such as DNA repair, apoptosis, or cellular senescence. In aortic tissue, persistent or dysregulated DDR signaling contributes to chronic inflammation, extracellular matrix degradation, and loss of vascular integrity. Key molecular regulators, including base excision repair enzymes OGG1 and APE1, as well as DDR mediators such as ATM, ATR, p53, PARP, and NOTCH1, integrate oxidative stress signals with pro-inflammatory and pro-degenerative pathways. Aberrant activation of these mechanisms promotes vascular smooth muscle cell VSMC phenotypic switching from contractile to synthetic phenotype, endothelial dysfunction, and senescence-associated secretory responses, thereby accelerating aortic wall weakening and aneurysm progression. This review highlights the mechanistic links between oxidative stress-induced DNA damage, DDR pathway activation, and vascular remodeling in aortopathies. A deeper understanding of these molecular interactions may uncover novel biomarkers and therapeutic targets aimed at limiting inflammation, preserving genomic stability, and preventing catastrophic aortic events. This work represents a narrative review and therefore has inherent limitations in terms of systematic literature search and selection.

Obesity is a major risk factor for both venous and arterial thrombosis, largely mediated by chronic oxidative stress and hemostatic dysregulation. Excess adipose tissue enhances the production of reactive oxygen species (ROS) from adipocytes and infiltrating macrophages, leading to lipid, protein, and DNA oxidation, reduced antioxidant capacity, and a pro-inflammatory milieu. These molecular alterations promote endothelial dysfunction, platelet hyperreactivity, hypercoagulability, and impaired fibrinolysis, creating a systemic prothrombotic state. Traditional coagulation assays provide limited insight into the dynamic process of thrombus formation under physiological flow. The Total Thrombus-Formation Analysis System (T-TAS) offers a microfluidic, flow-based platform that evaluates thrombus formation in whole blood under controlled shear conditions using collagen- or tissue factor-coated chips. T-TAS parameters, such as time to occlusion, area under the curve (AUC), and pressure kinetics, integrate platelet function, coagulation, and thrombus stability, providing a sensitive assessment of prothrombotic phenotypes. Combining oxidative stress biomarkers (e.g., malondialdehyde, 8-hydroxy-2′-deoxyguanosine, and total antioxidant capacity) with T-TAS-derived functional readouts enables a multidimensional evaluation of thrombosis risk in obese individuals. This review highlights current evidence linking obesity-induced oxidative stress to hemostatic disturbances and illustrates the translational potential of the T-TAS for mechanistic studies and clinical risk stratification. Understanding the interplay between redox imbalance and thrombus formation under flow conditions may inform novel therapeutic strategies to prevent obesity-related thromboembolic events.

Bicuspid aortic valve (BAV) is one of the most common congenital heart defects, introducing significant hemodynamic disturbances to the circulatory system. This narrative review analyzed articles published between 2012 and 2025 and indexed in PubMed. The aim was to synthesize key information on the etiopathogenesis of BAV, its potential complications and associated risks, as well as available pharmacological and surgical treatment strategies, with emphasis on indications and contraindications for specific surgical techniques. Analyses demonstrate that isolated BAV with typical valvular aortopathy is associated with a more favorable prognosis compared to valvular aortopathy syndromes. Valve phenotype shows important sex-related relationships in its presentation and progression. From a hemodynamic perspective, BAV alters blood flow angles, which may contribute to weakening of the aortic wall and secondary valve changes. BAV is also frequently associated with genetic disorders such as Marfan syndrome. The heterogeneity of aortopathies linked to BAV creates significant challenges for echocardiographers, cardiologists and cardiac surgeons, particularly in determining the optimal timing and strategy for surgical intervention.

Thoracic aortopathies, including aneurysm and dissection, are complex vascular disorders characterized by structural alterations of the aortic wall that disrupt normal haemodynamics. Altered shear stress, turbulent flow, and endothelial dysfunction promote thrombus formation and modulate systemic hemostasis via platelet activation and the von Willebrand factor–ADAMTS13 axis. The Total Thrombus-Formation Analysis System (T-TAS) is a microfluidic, flow-dependent assay that quantitatively evaluates thrombus formation under physiological shear conditions. Although studied in various cardiovascular contexts, its application in aortopathies remains largely unexplored, and no prospective studies have validated its clinical utility. Integrating T-TAS with computational haemodynamic approaches, such as two-way fluid–structure interaction simulations, enables assessment of the interplay between blood flow, vessel wall mechanics, pulse wave propagation, and local shear patterns. Patient-specific modelling, including individualized flow profiles, pressure distributions, and wall properties, may enhance mechanistic insights. Genetic variants in Fibrillin-1 gene (FBN1), Transforming Growth Factor Beta Receptor 1/2 (TGFBR1/2), Actin Alpha 2 (ACTA 2), and Myosin Heavy Chain 11 (MYH11) further contribute to structural vascular heterogeneity and diverse systemic haemostatic phenotypes, highlighting the need for personalized assessment. T-TAS should currently be considered an exploratory research tool rather than a validated diagnostic or prognostic method. This narrative review proposes a hypothesis-generating framework integrating structural, haemodynamic, molecular, and functional perspectives. Combining flow-based thrombosis assays with advanced modelling may inform future translational studies, improve mechanistic understanding of thrombus formation, and support personalized risk stratification and management in patients with thoracic aortopathies.

Całkowita niewrażliwość na androgeny (complete androgen insensitivity syndrome – CAIS; znana również jako zespół Morrisa) to rzadka jednostka chorobowa, związana z mutacją genu kodującego receptor androgenowy, znajdujący się na chromosomie płciowym X. Osoby z CAIS mimo męskiego kariotypu zazwyczaj identyfikują się jako kobiety, posiadając żeńskie zewnętrzne narządy płciowe. Opieka nad pacjentką z CAIS jest procesem złożonym, wymagającym zaangażowania interdyscyplinarnego zespołu, składającego się ze specjalistów z zakresu genetyki klinicznej, ginekologii, endokrynologii, psychiatrii i psychologii. Celem pracy jest zaprezentowanie przypadku 40-letniej pacjentki z pierwotnym brakiem miesiączki – u której rozpoznano mutację chromosomu X – w tym procedur diagnostycznych, a także leczenia farmakologicznego i chirurgicznego.