Cardiovascular Pathology最新文献

{"title":"Corrigendum to “The mitochondrial uncoupler 2,4-dinitrophenol modulates inflammatory and oxidative responses in Trypanosoma cruzi -induced acute myocarditis in mice” [Cardiovascular Pathology 72 (2024) 107653]","authors":"José Edson Caetano-da-Silva , Elda Gonçalves-Santos , Elisa L.B.C. Domingues , Ivo S. Caldas , Graziela D.A. Lima , Lívia F. Diniz , Reggiani V. Gonçalves , Rômulo D. Novaes","doi":"10.1016/j.carpath.2025.107806","DOIUrl":"10.1016/j.carpath.2025.107806","url":null,"abstract":"","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"81 ","pages":"Article 107806"},"PeriodicalIF":1.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mapping cardiac innervation in the long QT syndrome type 1 transgenic mouse model using whole heart imaging","authors":"Behnaz Forouhar Karadogan ,&nbsp;Aylin Karatas ,&nbsp;Esra Cagavi","doi":"10.1016/j.carpath.2025.107804","DOIUrl":"10.1016/j.carpath.2025.107804","url":null,"abstract":"<div><div>Cardiac innervation plays a crucial role in maintaining heart function. Abnormalities in cardiac innervation can be associated with arrhythmia, ischemic injury, and dysfunction, as documented in heart transplantation reports. There has been a lack of research on heart innervation patterns in congenital hereditary heart disease, including Long QT Syndrome (LQTS), which is a prevalent form of arrhythmia. By considering this gap, we comparatively analyzed global heart innervation patterns and axon fiber prevalence between wild-type (WT) and the <em>Kcnq1^A340E/A340E</em> mutation-bearing LQTS Type 1 transgenic mouse models. Hearts from WT and <em>Kcnq1^A340E/A340E</em> mice were immunostained with a pan-neuronal marker TUJ1 and imaged using the Lightsheet microscopy. The whole-heart images were processed and binarized to evaluate nerve fiber density, axon fiber diameter, focusing on fibers &lt; 2.5 μm and &gt; 2.5 μm on the dorsal and ventral sides of the heart, as well as branch number, length, and junction numbers. The comparative global innervation analysis of WT and <em>Kcnq1^A340E/A340E</em> transgenic mice hearts did not display a statistically significant difference in the TUJ1 immunoreactive nerve fiber density, analyzed by fluorescence intensity prevalence. Interestingly, the nerve fibers &lt; 2.5 μm were detected to have a lower prevalence in <em>Kcnq1^A340E/A340E</em> mice compared to WT mice on both dorsal and ventral sides. Furthermore, the branch number, branch length, or junction number of global heart innervation between the experimental groups showed similar quantitative values. Notably, the overlay of innervation patterns within and between WT and <em>Kcnq1^A340E/A340E</em> mice hearts revealed a distinct fiber distribution pattern. These findings indicated a unique, fingerprint-like innervation pattern in each heart, independent of the <em>Kcnq1</em> mutation. Collectively, our data indicated that the nerve fiber diameter distribution in the hearts of <em>Kcnq1^A340E/A340E</em> mice is slightly different from that of WT mice, and that there is a unique innervation pattern in each heart, similar to a heartprint, regardless of the mutation. Deciphering the underlying mechanisms behind ion channel mutations and cardiac innervation patterns by analyzing distinct congenital cardiac diseases awaits future investigation.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"81 ","pages":"Article 107804"},"PeriodicalIF":1.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spatial transcriptomics in the human left atrial appendage and pulmonary vein sleeve","authors":"Han Sun ,&nbsp;Juying Han ,&nbsp;Christine S. Moravec ,&nbsp;Toshihiro Okamoto ,&nbsp;Kenneth R. McCurry ,&nbsp;A. Marc Gillinov ,&nbsp;Mina K. Chung ,&nbsp;David R. Van Wagoner ,&nbsp;John Barnard ,&nbsp;Jonathan D. Smith","doi":"10.1016/j.carpath.2025.107802","DOIUrl":"10.1016/j.carpath.2025.107802","url":null,"abstract":"<div><div>Isolation of the pulmonary veins (PV) is a primary goal of ablation procedures to treat atrial fibrillation (AF), and the top genetic risk locus for AF is near PITX2, implicated in formation of the PVs. However, the challenges in obtaining PV tissues have limited progress in transcriptomic and mechanistic insights. Human PV and left atrial appendage (LAA) tissues, obtained from unused transplant donors, were used for spatial transcriptomic studies. Multiple cells and cell types may reside in each 55 µm diameter spatial area. Seurat clustering yielded 15 different clusters. Cell-type specific marker genes were used to determine the dominant cell types in these clusters, identifying several clusters enriched for cardiomyocytes, while others were enriched for additional cell types including fibroblasts, vascular smooth muscle cells, endothelial cells, and adipocytes. Spatial transcriptomics clearly resolved the venous, cardiomyocyte, and epicardial regions of the PV tissues, as well as fibrotic regions in LAAs and PVs. Spatial expression of the AF-associated genes <em>PITX2, SHOX2</em>, and <em>HCN4</em> confirmed presence in LAA and PVs with apparently higher expression of the cardiac master transcription factor <em>SHOX2</em> in the PV vs. LAA tissues, implicating the potential importance of <em>SHOX2</em> regulation in the PVs.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"81 ","pages":"Article 107802"},"PeriodicalIF":1.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145630196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Usefulness of electron microscopy in the diagnosis of heterozygous Fabry disease with left ventricular outflow tract obstruction masquerading as hypertrophic cardiomyopathy","authors":"Hiromitsu Kanamori ,&nbsp;Tamami Yoshida ,&nbsp;Hideki Matsumoto ,&nbsp;Genki Naruse ,&nbsp;Shingo Minatoguchi ,&nbsp;Hiroyuki Okura","doi":"10.1016/j.carpath.2025.107809","DOIUrl":"10.1016/j.carpath.2025.107809","url":null,"abstract":"<div><div>Fabry disease, characterized by α-galactosidase A (GLA) deficiency, causes left ventricular hypertrophy (LVH) often mimicking hypertrophic cardiomyopathy (HCM). Differentiating Fabry disease from HCM is crucial, given their therapeutic and prognostic differences. A 42-year-old female diagnosed with HCM with left ventricular outflow tract (LVOT) obstruction was referred to our cardiology department after complaining of exertional chest discomfort. Electrocardiography showed LVH with strained ST segment. Echocardiography showed normal wall motion with asymmetric LVH and systolic anterior motion of the mitral valve with a basal LVOT resting gradient of 71 mmHg. Endomyocardial biopsy (EMB) revealed moderately vacuolated cardiomyocytes under light microscopy. Electron microscopy (EM) revealed abundant accumulation of lamellar bodies within cardiomyocytes. Although LVOT obstruction is common in HCM but rare in Fabry disease, the EMB findings suggested Fabry disease. Subsequent genetic testing identified a heterozygous p.Ala37Val (c.110C&gt;<em>T</em>) GLA variant (NM_000169.3), confirming the diagnosis. The patient was prescribed bisoprorol and cibenzorine, which improved her resting gradient and symptoms, and chaperon therapy was initiated. In this case, the patient’s symptoms mimicked HCM with no clinical evidence of Fabry disease other than the electron microscopic findings. This case highlights the importance of EMB using EM to exclude Fabry disease when asymmetric LVH is seen.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"81 ","pages":"Article 107809"},"PeriodicalIF":1.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145833174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVER 4: Table of Contents/Barcode PMS 200","authors":"","doi":"10.1016/S1054-8807(26)00005-0","DOIUrl":"10.1016/S1054-8807(26)00005-0","url":null,"abstract":"","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"81 ","pages":"Article 107814"},"PeriodicalIF":1.9,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145920837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thoracic aortic diseases: Identification of diagnostic biomarkers using proteomic analysis","authors":"Nico Arndt ,&nbsp;Thomas Mair ,&nbsp;Maria Riedner ,&nbsp;Ali Biabani ,&nbsp;Hannah Voß ,&nbsp;Hartmut Schlüter ,&nbsp;Lukas Förster ,&nbsp;Tim Knochenhauer ,&nbsp;Marco Sachse ,&nbsp;Martin Beyer ,&nbsp;Maya Leonhardt ,&nbsp;Yskert von Kodolitsch ,&nbsp;Christian Schlein ,&nbsp;Guido Sauter ,&nbsp;Theresa Nauth ,&nbsp;Shiho Naito ,&nbsp;Evaldas Girdauskas ,&nbsp;Hermann Reichenspurner ,&nbsp;Christian Detter ,&nbsp;Georg Rosenberger ,&nbsp;Till Joscha Demal","doi":"10.1016/j.carpath.2025.107785","DOIUrl":"10.1016/j.carpath.2025.107785","url":null,"abstract":"<div><h3>Introduction</h3><div><strong>:</strong> Thoracic aortic aneurysms frequently go undetected until serious complications like acute dissections or ruptures arise. Therefore, this study aims to identify potential blood circulating biomarkers enabling an easy and early diagnosis of thoracic aortic disease.</div></div><div><h3>Methods</h3><div><strong>:</strong> Potential biomarker candidates were identified through two different techniques, untargeted and targeted proteomic as well as extracellular vesicle (EV) analyses. The biomarker levels were compared between two patient groups with thoracic aortic aneurysms and two control groups without thoracic aortic disease. In total, 80 patients (TAA group (<em>n</em> = 40) vs. control group (<em>n</em> = 40)) were matched for untargeted and targeted proteome analysis, and 85 for EV analysis (TAA group (<em>n</em> = 42) vs. control group (<em>n</em> = 43)), based on the availability of blood samples and excised aortic tissue. Levels of biomarker candidates were correlated with aortic diameter, patient age, and histological alterations in aortic tissue using linear and logistic regression models.</div></div><div><h3>Results</h3><div><strong>:</strong> The untargeted proteomic and EV analysis identified 1,037 and 1,077 proteins, respectively, of which 11 and 28 proteins showed significant differences in concentration between the study groups. Of these, 9 proteins correlated with the aortic diameter: ACTN1 (Regression coefficient <em>B</em> = 1.633, <em>p</em> &lt; 0.001), CRP (<em>B</em> = 0.001, <em>p</em> = 0.004), TGM3 (<em>B</em>=-0.293, <em>p</em> = 0.010), KRT84 (<em>B</em>=-0.477, <em>p</em> = 0.010), IGHG3 (-0.267, <em>p</em> = 0.018), DPYSL2 (<em>B</em> = 0.644, <em>p</em> = 0.020), TSPAN8 (B-0.838, <em>p</em> = 0.042), IGKV3D-11 (<em>B</em>=-0.242, <em>p</em> = 0.046), and VDAC1 (<em>B</em>=-0.491, <em>p</em> = 0.047). Moreover, IGKV3D-11 (<em>B</em>=-3.257, <em>p</em> = 0.029), IGHG3 (<em>B</em>=-0.003, <em>p</em> = 0.034), and APOC3 (<em>B</em>=-2.104, <em>p</em> = 0.037) showed significant correlations with the grade of aortic medial layer degeneration. None of the proteins correlated with patient age.</div></div><div><h3>Conclusion</h3><div><strong>:</strong> The study identified 9 biomarker candidates correlating with the aortic diameter. To enable the clinical use for diagnosis and prognostic assessment, these biomarkers need to be validated in larger external cohorts.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"80 ","pages":"Article 107785"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of amyloid deposition in patients undergoing surgical myectomy for presumed hypertrophic cardiomyopathy","authors":"David S. Katzianer ,&nbsp;Deborah H. Kwon ,&nbsp;Maran Thamilarasan ,&nbsp;J. Emanuel Finet ,&nbsp;Wael Jaber ,&nbsp;Milind Desai ,&nbsp;Nicholas Smedira ,&nbsp;E. Rene Rodriguez ,&nbsp;Carmela D. Tan ,&nbsp;Mazen Hanna","doi":"10.1016/j.carpath.2025.107779","DOIUrl":"10.1016/j.carpath.2025.107779","url":null,"abstract":"<div><h3>Background</h3><div>Cardiac amyloidosis (CA) and hypertrophic cardiomyopathy (HCM) share the phenotypic characteristic of increased left ventricular wall thickness and, while more common with HCM, both conditions can result in dynamic left ventricular outflow (LVOT) obstruction. We sought to examine the incidence of amyloid deposition in myectomy specimens at a high-volume center for surgical myectomy and describe the pathologic characteristics and patient population.</div></div><div><h3>Methods and Results</h3><div>We reviewed the surgical myectomy database at our institution and found a total of 27 of 3,292 (0.8 %) with cardiac amyloidosis on pathologic examination of myectomy specimens. Many of these had preoperative imaging features consistent with hypertrophic cardiomyopathy with asymmetric hypertrophy and LVOT obstructive physiology.</div></div><div><h3>Conclusion</h3><div>Nearly 1 % of patients referred for surgical myectomy were found to have unexpected amyloid deposits on pathologic examination. Recognition of this finding, although very infrequent, is important for long-term management of these patients.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"80 ","pages":"Article 107779"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The orphan receptor GPRC5B promotes macrophage infiltration and an inflammatory plaque phenotype in atherosclerosis","authors":"Greta Verena Freundt ,&nbsp;Friedrich Alexander von Samson-Himmelstjerna ,&nbsp;Jan-Thorge Nitz ,&nbsp;Frederik Stelter ,&nbsp;Norbert Frey ,&nbsp;Mark Luedde ,&nbsp;Michael R. Preusch ,&nbsp;Hans-Jörg Hippe","doi":"10.1016/j.carpath.2025.107784","DOIUrl":"10.1016/j.carpath.2025.107784","url":null,"abstract":"<div><h3>Background and aims</h3><div>Atherosclerosis is driven by chronic inflammation of the vascular wall, in which macrophages play a central role. The orphan G protein-coupled receptor GPRC5B is expressed in vascular cells and macrophages and is upregulated during monocyte-to-macrophage differentiation. It has been shown to activate NFκB-dependent inflammatory pathways in adipose tissue and glomeruli. Here, we investigated the impact of GPRC5B on macrophage infiltration and the progression of atherosclerotic plaque development in vivo.</div></div><div><h3>Methods</h3><div>Bone marrow from heterozygous GPRC5B-transgenic C57BL/6 mice and wild-type controls was transplanted into lethally irradiated LDL receptor-deficient mice. Animals were fed a Western-type diet for 16 weeks, after which atherosclerotic lesions in the aortic sinus were analyzed.</div></div><div><h3>Results</h3><div>Mice receiving GPRC5B-transgenic bone marrow showed no significant differences in serum lipids or cardiac mass indices. However, they exhibited significantly increased macrophage infiltration within atherosclerotic plaques and a non-significant trend toward larger and more complex lesions.</div></div><div><h3>Conclusions</h3><div>GPRC5B overexpression in bone marrow-derived monocyte/macrophage lineage cells promotes a more inflammatory plaque phenotype, characterized by enhanced macrophage infiltration. These findings highlight GPRC5B as a potential modulator of plaque progression and suggest it may represent a novel therapeutic target in vascular inflammation and atherosclerosis.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"80 ","pages":"Article 107784"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145225173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantified calcification in rat aortic valves isolated with the sinus of Valsalva coordinates with calciprotein particles formation","authors":"Shota Morikane ,&nbsp;Koichi Ishida ,&nbsp;Naoki Ashizawa ,&nbsp;Tetsuya Taniguchi ,&nbsp;Masaya Matsubayashi ,&nbsp;Naoki Kurita ,&nbsp;Seiichi Kobashi ,&nbsp;Takashi Iwanaga","doi":"10.1016/j.carpath.2025.107788","DOIUrl":"10.1016/j.carpath.2025.107788","url":null,"abstract":"<div><h3>Background</h3><div>Aortic valve sclerosis, in which calcification is a major pathogenesis, is a serious complication of chronic kidney disease. In small animal experiments, it is difficult to evaluate aortic valve calcification quantitatively except for diagnostic imaging because of their small size. In this study, to quantify rat aortic valve calcification, we isolated rat whole aortic valves and verified whether its calcification has own characteristics by investigating a relationship with calciprotein particles (CPP) formation, which is suggested as a biomarker of tissue calcification.</div></div><div><h3>Methods</h3><div>Human aortic valve interstitial cells (HAVICs) were cultured in a high-phosphate medium with or without two bisphosphonates, and their calcification was determined. The rats were injected with vitamin D to induce calcification and were treated with the bisphosphonates. The whole aortic valve was collected by trimming from the base of the aortic arch to the heart (including the sinus of Valsalva), and calcification and CPP formation in the serum were measured.</div></div><div><h3>Results</h3><div>Calcification of HAVICs was inhibited by two bisphosphonates accompanied by inhibition of CPP formation. In vitamin D-treated rats, calcium content of the region collected as aortic valve was equivalent to that of the aorta and higher than that of the heart, whereas calcification suppression by the bisphosphonates in the collected region was equivalent to that in the heart and stronger than that in the aorta. The bisphosphonate-induced inhibition percentages of calcification in the collected region correlated with that of CPP formation, and the correlation was different from that observed in the aorta and heart.</div></div><div><h3>Conclusions</h3><div>The collecting whole aortic valve allowed easy and accurate assessment of calcification, which was quantitatively supported by the close correlation with CPP formation, and showed different characteristic from those in the aorta and heart. The results will provide crucial information for exploring the mechanism of valve calcification and for the discovery of calcification inhibitors.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"80 ","pages":"Article 107788"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145353954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aortic regurgitation as a cause of sudden cardiac death with aortic and left ventricular remodelling - the role of the bicuspid valve","authors":"Lauren Moran,&nbsp;Joseph Westaby,&nbsp;Mary N. Sheppard","doi":"10.1016/j.carpath.2025.107781","DOIUrl":"10.1016/j.carpath.2025.107781","url":null,"abstract":"<div><h3>Background and objective</h3><div>Aortic regurgitation (AR) results in blood flow from the aorta back into the left ventricle, which leads to left ventricular hypertrophy and dilation which, in a clinical setting, leads to heart failure and death. However, it is not a well-recognised cause of sudden cardiac death (SCD).</div></div><div><h3>Methods</h3><div>We identified 10 cases of AR with no other cause of death from our database of 8,551 cases of SCD. All these cases had a full autopsy with negative toxicology. Diagnosis of AR was based upon the presence of prominent ridges on the edge of the aortic valve (AV) cusps with aortic root dilatation, and no significant calcification within the cusps. We measured heart weight, circumference of aortic annulus and ascending aorta, diameter of left ventricle, and circumferential left ventricle wall thickness prospectively. Cases were age and sex matched 2:1 to individuals with morphologically normal hearts with normal aortic valves.</div></div><div><h3>Results</h3><div>Age was 43±14 years, with 7 males and 3 females in the AR group, and 14 males and 6 females in the control group. Heart weight was significantly higher in individuals with AR compared to controls (642±200g vs 370±75g, p&lt;0.001). All cases showed thick regurgitant ridges on the edges of all valvular leaflets macroscopically. The aortic annulus circumference (73±14mm vs 54±7mm, p&lt;0.001) and the circumference of the ascending aorta (85±27mm vs 56±7mm, p&lt;0.001) were significantly dilated in AR. The left ventricular cavity diameter was significantly larger in AR (52±15mm vs 30±8mm, p&lt;0.001). There was no significant difference seen in maximal wall thickness of the left ventricle (16±6mm vs 14±2mm, p=0.068). 7 out of 10 AR cases had bicuspid aortic valves (70%) while two were rheumatic and one just had a dilated aorta. Microscopically, left ventricular fibrosis was seen in 7 of the AR cases (70%).</div></div><div><h3>Discussion</h3><div>AR is a rare cause of SCD, most commonly associated with bicuspid aortic valve. It can be recognised by prominent ridges on the AV cusps and/or thickening of the cusp free margin with aortic annular dilatation. It is only considered significant as a cause of death when found with increased heart weight, left ventricular dilatation, and/or ventricular fibrosis in the absence of other cardiac pathology. We demonstrate that there is a strong association between BAV, AR and SCD. As BAV is a congenital condition, clinical or surgical intervention could potentially prevent subsequent cardiac enlargement and fibrosis, thereby preventing SCD.</div></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"80 ","pages":"Article 107781"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145102646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}