Cardiovascular Pathology最新文献

{"title":"Erdheim-Chester disease requires extensive prospective and thorough work-up for multisystem involvement","authors":"Josef Finsterer","doi":"10.1016/j.carpath.2024.107638","DOIUrl":"10.1016/j.carpath.2024.107638","url":null,"abstract":"","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107638"},"PeriodicalIF":3.7,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140329599","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":"Incidence of quadricuspid pulmonary valves at postmortem examination","authors":"Michael Duffy ,&nbsp;Sarah Parsons ,&nbsp;Joseph Westaby ,&nbsp;Mary Sheppard","doi":"10.1016/j.carpath.2024.107636","DOIUrl":"10.1016/j.carpath.2024.107636","url":null,"abstract":"<div><p>Quadricuspid pulmonic valve is a rare congenital abnormality and because of its difficult non-invasive assessment, it is usually discovered incidentally at autopsies (reported prevalence in post-mortem specimens ranges from 1 in 400 to 1 in 2000). Unlike a bicuspid pulmonary valve, it rarely presents with clinical complications, such as valvular insufficiency or stenosis. Abnormal function is rarely reported in cases that are not associated with other congenital heart disease. With increased sophistication of imaging coincidental quadricuspid valves autopsy studies are important to understand the anatomical consequences of this finding. Our case series identified 21 QPV cases from the Victorian Institute of Forensic Medicine, Melbourne and St George's University of London, Department of Cardiovascular Pathology. Cases were identified through local database searches and review of autopsy/cardiac examination reports over a 20-year period. Available photographs were also systematically examined. Fifteen cases had causes of death with no direct causality to cardiac valvular pathology alone. Six cases were considered unascertained or similar (sudden arrhythmic death syndrome and sudden unexpected death in epilepsy). The presence of QPV in these instances were uncertain but thought to be unlikely contributory to death, due to the absence of pulmonary valvular complications.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107636"},"PeriodicalIF":3.7,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000322/pdfft?md5=056849791224664bc51f8689ba2850fb&pid=1-s2.0-S1054880724000322-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140193433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cellular and molecular mechanisms driving cardiac tissue fibrosis: On the precipice of personalized and precision medicine","authors":"Ali Fatehi Hassanabad ,&nbsp;Anna N. Zarzycki ,&nbsp;Paul W.M. Fedak","doi":"10.1016/j.carpath.2024.107635","DOIUrl":"10.1016/j.carpath.2024.107635","url":null,"abstract":"<div><p>Cardiac fibrosis is a significant contributor to heart failure, a condition that continues to affect a growing number of patients worldwide. Various cardiovascular comorbidities can exacerbate cardiac fibrosis. While fibroblasts are believed to be the primary cell type underlying fibrosis, recent and emerging data suggest that other cell types can also potentiate or expedite fibrotic processes. Over the past few decades, clinicians have developed therapeutics that can blunt the development and progression of cardiac fibrosis. While these strategies have yielded positive results, overall clinical outcomes for patients suffering from heart failure continue to be dire. Herein, we overview the molecular and cellular mechanisms underlying cardiac tissue fibrosis. To do so, we establish the known mechanisms that drive fibrosis in the heart, outline the diagnostic tools available, and summarize the treatment options used in contemporary clinical practice. Finally, we underscore the critical role the immune microenvironment plays in the pathogenesis of cardiac fibrosis.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107635"},"PeriodicalIF":3.7,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000310/pdfft?md5=afffe98beb64b2e22e82148b9eff4598&pid=1-s2.0-S1054880724000310-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140173841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subclinical maternal autoimmune disease leading to congenital high degree atrioventricular block: Case report and review of the literature","authors":"Shelby E. Walcott ,&nbsp;Christian H. Tan ,&nbsp;Jason Wicker ,&nbsp;Silvio Litovsky","doi":"10.1016/j.carpath.2024.107634","DOIUrl":"10.1016/j.carpath.2024.107634","url":null,"abstract":"<div><p>Maternal autoimmune disease is the most common cause of congenital heart block (CHB), a rare illness characterized by fibrosis and calcification of the fetal atrioventricular (AV) node due to maternal autoantibodies anti-SSA/Ro and anti-SSB/La. We report the full autopsy and clinical information on a female neonate with high degree AV block and calcification in the AV node, atrial approaches to the AV node, and both right and left bundle branches, born to a 27-year-old female with subclinical autoimmune disease.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"72 ","pages":"Article 107634"},"PeriodicalIF":3.7,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140173842","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":"Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas","authors":"Annette Zimpfer ,&nbsp;Liza M. Abel ,&nbsp;Anthony Alozie ,&nbsp;Christian D. Etz ,&nbsp;Björn Schneider","doi":"10.1016/j.carpath.2024.107632","DOIUrl":"10.1016/j.carpath.2024.107632","url":null,"abstract":"<div><h3>Purpose</h3><p>Cardiac myxomas (CMs) are the second most common benign primary cardiac tumors, mainly originating within the left atrium. Approximately 5% of CM cases are associated with Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome often caused by germline mutations in the protein kinase A regulatory subunit 1A (<em>PRKAR1A</em>). Data concerning <em>PRKAR1A</em> alterations in sporadic myxomas are variable and sparse, with <em>PRKAR1A</em> mutations reported to range from 0% to 87%. Therefore, we investigated the frequency of <em>PRKAR1A</em> mutations in sporadic CM using next-generation sequencing (NGS). Additionally, we explored mutations in the catalytic domain of the Protein Kinase A complex (<em>PRKACA</em>) and examined the presence of GNAS mutations as another potential driver.</p></div><div><h3>Methods and results</h3><p>This study retrospectively collected histological and clinical data from 27 patients with CM. First, we ruled out the possibility of underlying CNC through clinical evaluations and standardized interviews for each patient. Second, we performed PRKAR1A immunohistochemistry (IHC) analysis and graded the reactivity of myxoma cells semi-quantitatively. NGS was then applied to analyze the coding regions of <em>PRKAR1A, PRKACA</em>, and <em>GNAS</em> in all 27 cases. Of the 27 sporadic CM cases, 13 (48%) harbored mutations in <em>PRKAR1A</em>. Among these 13 mutant cases, six displayed more than one mutation in <em>PRKAR1A</em>. Most of the identified mutations resulted in premature stop codons or affected splicing. In <em>PRKAR1A</em> mutant CM cases, the loss of PRKAR1A protein expression was significantly more common. In two cases with missense mutations, protein expression remained preserved. Furthermore, a single mutation was detected in the catalytic domain of the protein kinase A complex, while no GNAS mutations were found.</p></div><div><h3>Conclusion</h3><p>We identified a relatively high frequency of <em>PRKAR1A</em> mutations in sporadic CM. These <em>PRKAR1A</em> mutations may also represent an important oncogenic mechanism in sporadic myxomas, as already known in CM cases associated with CNC.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107632"},"PeriodicalIF":3.7,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000280/pdfft?md5=2fcc0d004762127ec052c78c89587047&pid=1-s2.0-S1054880724000280-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency","authors":"Jiayu Jing ,&nbsp;Cui Zhang ,&nbsp;Sihao Du,&nbsp;Xiaohui Tan,&nbsp;Xia Yue,&nbsp;Dongfang Qiao","doi":"10.1016/j.carpath.2024.107630","DOIUrl":"10.1016/j.carpath.2024.107630","url":null,"abstract":"<div><p>A female neonate born with normal Apgar scores at 38+2 weeks of gestational age unexpectedly passed away within less than 30 hours after birth. The situation mirrored her brother's earlier demise within 24 hours post-delivery, suggesting a possible genetic disorder. Gross examination revealed widespread cyanosis and distinct yellowish changes on the cardiac ventricles. Histopathological examination disclosed lipid accumulation in the liver, heart, and kidneys. Tandem mass spectrometry detected elevated levels of 10 amino acids and 14 carnitines in cardiac blood. Trio-whole genome sequencing (Trio-WGS) identified the <em>SLC25A20 c.199-10T&gt;G</em> mutation associated with carnitine-acylcarnitine translocase disease (CACTD), a type of fatty acid oxidation disorders (FAODs) with a potential for sudden death. Further validation of gene expression confirmed the functional deficiency of <em>SLC25A20</em>, ultimately diagnosing CACTD as the underlying cause of the neonate's demise. This case highlights the importance of prenatal metabolic and genetic screening for prospective parents and emphasizes the need for forensic doctors to integrate metabolomic and genomic investigations into autopsies for suspected inherited metabolic diseases.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107630"},"PeriodicalIF":3.7,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140136497","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":"Sudden unexpected intrapartum death and left ventricular noncompaction involving the right ventricle","authors":"Giulia Ottaviani ,&nbsp;Tobia Tomasello ,&nbsp;Francesca Boggio ,&nbsp;Letterio Runza ,&nbsp;Alessandro Del Gobbo ,&nbsp;L. Maximilian Buja","doi":"10.1016/j.carpath.2024.107633","DOIUrl":"10.1016/j.carpath.2024.107633","url":null,"abstract":"<div><p>Left ventricular noncompaction (LVNC), involving mainly the right ventricle, is a rare form of congenital heart disorder characterized by a developmental arrest in myocardial compaction, resulting in a spongy appearance of the myocardium, mainly of the right ventricle, rarely detected in fetuses. We report the case of a female fetus with a gestational age of 41⁺⁴ weeks who came to our attention for intrapartum sudden unexpected death, resulting in stillbirth. The ventricular walls, particularly the right ventricular wall, appeared thick, hypertrabeculated and spongy, leading to the diagnosis of LVNC involving mainly the right ventricle. The atrioventricular node and His bundle presented areas of fetal dispersion and resorptive degeneration; islands of conduction tissue were detected in the central fibrous body. Arcuate nucleus of the brainstem showed bilateral severe hypoplasia. The right bundle branch was hypoplastic. The final cause of death was an electrical conduction disfunction in an LVNC involving mainly the right ventricle. To the best of our knowledge, the herein described case is the first reported observation of sudden intrapartum death from LVNC involving mainly the right ventricle well documented post-mortem with cardiac conduction and brainstem studies. Our findings confirm the need of an accurate post-mortem examination including the study of the cardiac conduction system on serial section in every case of sudden unexpected fetal death, although there are no universally recognized guidelines.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107633"},"PeriodicalIF":3.7,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000292/pdfft?md5=50ba7f190e5d602ba2a9d8957da23fc3&pid=1-s2.0-S1054880724000292-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140126382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aortic valve fibroelastoma presenting with myocardial infarction with non-obstructive coronary arteries (MINOCA): A case report and review of the literature","authors":"Martino Pepe ,&nbsp;Rocco Tritto ,&nbsp;Maria Ludovica Naccarati ,&nbsp;Simona Quarta ,&nbsp;Andrea Marzullo ,&nbsp;Marco Matteo Ciccone","doi":"10.1016/j.carpath.2024.107631","DOIUrl":"10.1016/j.carpath.2024.107631","url":null,"abstract":"<div><p>Cardiac papillary fibroelastomas (CPFs) are rare benign cardiac tumors more often involving the left-sided valves and related with threatening embolic complications. We report the case of a 35-year-old woman presenting with relapsing-remitting chest pain and elevated cardiac troponins. After a negative coronary angiography, an integrated imaging assessment based on echocardiography and cardiac magnetic resonance showed a pedunculated mass on the aortic valve causing an intermittent obstructive engagement of the right coronary ostium. A tailored surgical treatment was performed and the histopathological examination of the specimen revealed mesenchymal tissue with the characteristics of CPF.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107631"},"PeriodicalIF":3.7,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140101077","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 potential involvement of glycocalyx disruption in abdominal aortic aneurysm pathogenesis","authors":"Bibi Rabia ,&nbsp;Shivshankar Thanigaimani ,&nbsp;Jonathan Golledge","doi":"10.1016/j.carpath.2024.107629","DOIUrl":"10.1016/j.carpath.2024.107629","url":null,"abstract":"<div><h3>Background</h3><p>Abdominal aortic aneurysm is a weakening and expansion of the abdominal aorta. Currently, there is no drug treatment to limit abdominal aortic aneurysm growth. The glycocalyx is the outermost layer of the cell surface, mainly composed of glycosaminoglycans and proteoglycans.</p></div><div><h3>Objective</h3><p>The aim of this review was to identify a potential relationship between glycocalyx disruption and abdominal aortic aneurysm pathogenesis.</p></div><div><h3>Methods</h3><p>A narrative review of relevant published research was conducted.</p></div><div><h3>Results</h3><p>Glycocalyx disruption has been reported to enhance vascular permeability, impair immune responses, dysregulate endothelial function, promote extracellular matrix remodeling and modulate mechanotransduction. All these effects are implicated in abdominal aortic aneurysm pathogenesis. Glycocalyx disruption promotes inflammation through exposure of adhesion molecules and release of proinflammatory mediators. Glycocalyx disruption affects how the endothelium responds to shear stress by reducing nitric oxide availabilty and adversely affecting the storage and release of several antioxidants, growth factors, and antithromotic proteins. These changes exacerbate oxidative stress, stimulate vascular smooth muscle cell dysfunction, and promote thrombosis, all effects implicated in abdominal aortic aneurysm pathogenesis. Deficiency of key component of the glycocalyx, such as syndecan-4, were reported to promote aneurysm formation and rupture in the angiotensin-II and calcium chloride induced mouse models of abdominal aortic aneurysm.</p></div><div><h3>Conclusion</h3><p>This review provides a summary of past research which suggests that glycocalyx disruption may play a role in abdominal aortic aneurysm pathogenesis. Further research is needed to establish a causal link between glycocalyx disruption and abdominal aortic aneurysm development.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107629"},"PeriodicalIF":3.7,"publicationDate":"2024-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1054880724000255/pdfft?md5=6b2b4fb6d4585c367969f632fea3a9db&pid=1-s2.0-S1054880724000255-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3D models of the cardiac conduction system in healthy neonatal human hearts","authors":"Brian Cottle ,&nbsp;Karl Schriewer ,&nbsp;Sarthak Tiwari ,&nbsp;Dylan Miller ,&nbsp;Aditya Kaza ,&nbsp;Robert Hitchcock ,&nbsp;Frank B. Sachse","doi":"10.1016/j.carpath.2024.107626","DOIUrl":"10.1016/j.carpath.2024.107626","url":null,"abstract":"<div><p>Iatrogenic damage to the cardiac conduction system (CCS) remains a significant risk during congenital heart surgery. Current surgical best practice involves using superficial anatomical landmarks to locate and avoid damaging the CCS. Prior work indicates inherent variability in the anatomy of the CCS and supporting tissues. This study introduces high-resolution, 3D models of the CCS in normal pediatric human hearts to evaluate variability in the nodes and surrounding structures. Human pediatric hearts were obtained with an average donor age of 2.7 days. A pipeline was developed to excise, section, stain, and image atrioventricular (AVN) and sinus nodal (SN) tissue regions. A convolutional neural network was trained to enable precise multi-class segmentation of whole-slide images, which were subsequently used to generate high- resolution 3D tissue models. Nodal tissue region models were created. All models (10 AVN, 8 SN) contain tissue composition of neural tissue, vasculature, and nodal tissues at micrometer resolution. We describe novel nodal anatomical variations. We found that the depth of the His bundle in females was on average 304 μm shallower than those of male patients. These models provide surgeons with insight into the heterogeneity of the nodal regions and the intricate relationships between the CCS and surrounding structures.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"70 ","pages":"Article 107626"},"PeriodicalIF":3.7,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140064966","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}