Cardiovascular Pathology最新文献

{"title":"Pulmonary vascular disease in Veterans with post-deployment respiratory syndrome","authors":"Sergey S. Gutor ,&nbsp;Bradley W. Richmond ,&nbsp;Vineet Agrawal ,&nbsp;Evan L. Brittain ,&nbsp;Ciara M. Shaver ,&nbsp;Pingsheng Wu ,&nbsp;Taryn K. Boyle ,&nbsp;Ravinder R. Mallugari ,&nbsp;Katrina Douglas ,&nbsp;Robert N. Piana ,&nbsp;Joyce E. Johnson ,&nbsp;Robert F. Miller ,&nbsp;John H. Newman ,&nbsp;Timothy S. Blackwell ,&nbsp;Vasiliy V. Polosukhin","doi":"10.1016/j.carpath.2024.107640","DOIUrl":"https://doi.org/10.1016/j.carpath.2024.107640","url":null,"abstract":"<div><p>Exertional dyspnea has been documented in US military personnel after deployment to Iraq and Afghanistan. We studied whether continued exertional dyspnea in this patient population is associated with pulmonary vascular disease (PVD). We performed detailed histomorphometry of pulmonary vasculature in 52 Veterans with biopsy-proven post-deployment respiratory syndrome (PDRS) and then recruited five of these same Veterans with continued exertional dyspnea to undergo a follow-up clinical evaluation, including symptom questionnaire, pulmonary function testing, surface echocardiography, and right heart catheterization (RHC). Morphometric evaluation of pulmonary arteries showed significantly increased intima and media thicknesses, along with collagen deposition (fibrosis), in Veterans with PDRS compared to non-diseased (ND) controls. In addition, pulmonary veins in PDRS showed increased intima and adventitia thicknesses with prominent collagen deposition compared to controls. Of the five Veterans involved in our clinical follow-up study, three had borderline or overt right ventricle (RV) enlargement by echocardiography and evidence of pulmonary hypertension (PH) on RHC. Together, our studies suggest that PVD with predominant venular fibrosis is common in PDRS and development of PH may explain exertional dyspnea and exercise limitation in some Veterans with PDRS.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107640"},"PeriodicalIF":3.7,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S105488072400036X/pdfft?md5=af04a4c5d2cbe6996241f751749ef6ec&pid=1-s2.0-S105488072400036X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140816263","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":"Rare cardiac inflammatory pseudotumor in a toddler: Complementary roles of cardiac magnetic resonance and positron emission tomography","authors":"Melissa Mejia-Bautista ,&nbsp;Jennifer Romanowicz ,&nbsp;Monica Hollowell ,&nbsp;Tal Geva ,&nbsp;Chrystalle Katte Carreon ,&nbsp;Rebecca S. Beroukhim","doi":"10.1016/j.carpath.2024.107639","DOIUrl":"10.1016/j.carpath.2024.107639","url":null,"abstract":"<div><p>We present a rare pediatric case of cardiac inflammatory pseudotumor (IPT) with a unique presentation of fever of unknown origin with markedly elevated inflammatory markers. A right atrial mass was discovered incidentally by echocardiography. The cardiac magnetic resonance (CMR) signal characteristics and mass location were not consistent with any of the common benign cardiac tumors of childhood. The presence of high signal intensity on T2 imaging and late gadolinium enhancement, in conjunction with intense metabolic activity at the mass site on positron emission tomography (PET), raised the possibility of an inflammatory or malignant mass. The diagnosis of IPT was confirmed by biopsy. Our case highlights the utility of PET imaging to confirm the inflammatory nature and extent of an IPT.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107639"},"PeriodicalIF":3.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874499","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 distribution of the depth of aortic dissection and the correlation of the dissection depth index with other parameters","authors":"Youping Chen ,&nbsp;Wei Qu ,&nbsp;Zhenlu Zhang ,&nbsp;Mengya Li ,&nbsp;Yang Wu","doi":"10.1016/j.carpath.2024.107637","DOIUrl":"10.1016/j.carpath.2024.107637","url":null,"abstract":"<div><h3>Background</h3><p>In patients with aortic dissection, the aortic wall is separated into two layers along a dissection plane. In this study, a survey was performed to investigate the distribution of the depth of dissection plane and its correlation with other clinical and pathological parameters to help understand and expand the current knowledge of aortic dissection.</p></div><div><h3>Methods</h3><p>Pathology information system were searched for patients with aortic dissection who had undergone aortic replacement between 2019 and 2022 in Wuhan Asia General Hospital. The depth of dissection plane and dissection depth index were measured in the area around the edge of dissection plane. Correlation between parameters was calculated using Spearman's rank correlation coefficient.</p></div><div><h3>Results</h3><p>124 patients were included in this study. The depth of dissection plane ranged from 533 to 2335 microns, and the 5th percentile was 778 microns. The dissection depth index ranged from 0.320 to 0.972, and the 5th percentile was 0.503. The correlation coefficients were -0.305 (<em>P</em>=.0007), -0.259 (<em>P</em>=0.0111), 0.188 (<em>P</em>=0.0367), 0.189 (<em>P</em>=0.0359) respectively for male gender, the length of aortic dissection, atherosclerosis, and translamellar mucoid extracellular matrix accumulation.</p></div><div><h3>Conclusions</h3><p>In 95% of patients with aortic dissection, the depth of dissection plane is larger than 778 microns, and the dissection depth index is greater than 0.503. In other words, aortic dissection rarely occurs in the inner 50.3% of the aortic media. The dissection depth index is negatively correlated with male gender and the length of aortic dissection, and positively correlated with atherosclerosis and translamellar mucoid extracellular matrix accumulation.</p></div>","PeriodicalId":9451,"journal":{"name":"Cardiovascular Pathology","volume":"71 ","pages":"Article 107637"},"PeriodicalIF":3.7,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140326364","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":"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}