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Diagnostics
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Vascular Malformations: Diagnosis and Management
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Vascular Malformations: Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 October 2024) | Viewed by 10948

Special Issue Editor

Dr. Jun Zhang

E-Mail Website
Guest Editor
Texas Tech University Health Sciences Center El Paso, El Paso, TX 79409 801, USA
Interests: angiogenesis; tumorigenesis; molecular genetics; molecular biology; biochemistry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Vascular malformations stem from aberrant development in blood vessels, lymph vessels, veins, or arteries, resulting in rare developmental anomalies. These abnormalities can also be triggered by accidents or hormonal fluctuations, exacerbating the vascular alterations. The significance of this condition lies in its tendency to give rise to a multitude of issues, necessitating the involvement of numerous medical subspecialties for effective management. Dermatology, general surgery, plastic surgery, otolaryngology, hematology, pathology, ophthalmology, orthopedics, physical and occupational therapy, along with social services often play pivotal roles in treating these patients.

To ensure comprehensive patient care and accurate management, established treatment centers bring together these subspecialties. This collaborative approach facilitates precise diagnoses and holistic management plans. In this context, a primary focus emerges on cerebral vascular malformations due to their critical implications. The overarching goal is to generate in-depth discourse on ongoing research related to vascular malformations, particularly emphasizing cerebral vascular anomalies. Such insights contribute to a better understanding of these complex conditions, fostering advancements in their diagnosis and treatment.

Dr. Jun Zhang
Guest Editor

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • vascular malformations
  • cerebral vascular anomalies
  • etiology
  • complex conditions
  • diagnosis and treatment

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Published Papers (10 papers)

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Research

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10 pages, 791 KiB  
Article
Cardiovascular and Ocular Parameter Alterations in Response to Cold Pressor Test in Young Adults
by Adithep Daradas, Supaporn Kulthinee, Tichanon Promsrisuk, Pemika Kesornwanichwattana, Phimchanok Thaingkrathok, Sureeporn Pongampai, Pongnugoon Kongjaidee, Nutthakan Seeja, Montatip Poomvanicha and Phatiwat Chotimol
Diagnostics 2024, 14(18), 2010; https://doi.org/10.3390/diagnostics14182010 - 11 Sep 2024
Viewed by 675
Abstract
The sympathetic nervous responses to cold stress are known; however, concurrent cardiovascular and ocular parameter alterations in the responses are poorly characterized. The aim of this study was to examine the influence of the cold pressor test (CPT) on cardiovascular and ocular parameters [...] Read more.
The sympathetic nervous responses to cold stress are known; however, concurrent cardiovascular and ocular parameter alterations in the responses are poorly characterized. The aim of this study was to examine the influence of the cold pressor test (CPT) on cardiovascular and ocular parameters in young adult subjects. There was a total of 86 participants. The CPT was conducted by submerging each participant’s left hand in cold water (3–5 °C) for 3 min. During the CPT, systolic blood pressure, diastolic blood pressure, mean arterial pressure (MAP), and heart rate were found to be significantly increased compared to the baseline and significantly decreased compared to recovery, including the mean of the standard deviations of all normal-to-normal intervals (SDNN). In the recovery phase, the SDNN continued to decrease statistically significantly compared to the baseline and the CPT. Furthermore, the findings of this study show that the CPT impacted intra-ocular pressure (IOP), ACD, and pupil size parameters. There was a positive correlation between the MAP and IOP in both eyes during the CPT. The cold stress stimulates a sympathetic response, leading to an increase in the MAP. The pupil size increased in response to the CPT in both eyes, indicating that ocular function was increased in response to the CPT in young adults compared to baseline. In conclusion, our results suggest that in young adults, cardiovascular and ocular parameters respond to the sympathetic nervous system during the CPT. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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8 pages, 438 KiB  
Communication
Intraoperative Prediction of Coronary Graft Failure Based on Transit Time Flow Measurement: A PRELIMINARY STUDY
by Boris N. Kozlov, Vasily V. Zatolokin, Andrew V. Mochula, Yusufjon Alisherov, Dmitri S. Panfilov, Nikolay O. Kamenshchikov and Elena B. Kim
Diagnostics 2024, 14(17), 1903; https://doi.org/10.3390/diagnostics14171903 - 29 Aug 2024
Viewed by 448
Abstract
Myocardial revascularization has been known to not affect the prognosis in some patients. Coronary artery bypass graft (CABG) failure may develop one year after CABG surgery. This is accompanied by a high risk of developing myocardial infarction after complete myocardial revascularization in obstructive [...] Read more.
Myocardial revascularization has been known to not affect the prognosis in some patients. Coronary artery bypass graft (CABG) failure may develop one year after CABG surgery. This is accompanied by a high risk of developing myocardial infarction after complete myocardial revascularization in obstructive coronary artery disease (CAD) due to microvascular dysfunction. The study of microvascular dysfunction using intraoperative stress tests with adenosine triphosphate (ATP) allows for the assessment of the coronary bypass flow reserve (CBFR) and the risk of graft failure one year after surgery. The study included 79 CAD patients (238 grafts) who underwent dynamic single-photon emission computed tomography (SPECT) before CABG and dynamic transit time flow measurement (TTFM) during CABG at rest and at stress. The CBFR was calculated by the ratio of the mean graft flow (MGF) at stress to the MGF at rest. A multivariate regression model showed that the MGF at rest (p = 0.043), the MGF at stress (p = 0.026) and the CBFR (p = 0.0001) were significant independent predictors of graft failure. As a result of ROC analysis, the threshold CBFR < 1.67 units correlated with graft failure more closely (sensitivity 82%, specificity 90%) The CBFR is a significant independent predictor of graft failure for up to 16 months. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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25 pages, 5696 KiB  
Article
Whole-Genome Omics Elucidates the Role of CCM1 and Progesterone in Cerebral Cavernous Malformations within CmPn Networks
by Jacob Croft, Brian Grajeda, Liyuan Gao, Johnathan Abou-Fadel, Ahmed Badr, Victor Sheng and Jun Zhang
Diagnostics 2024, 14(17), 1895; https://doi.org/10.3390/diagnostics14171895 - 28 Aug 2024
Viewed by 655
Abstract
Cerebral cavernous malformations (CCMs) are abnormal expansions of brain capillaries that increase the risk of hemorrhagic strokes, with CCM1 mutations responsible for about 50% of familial cases. The disorder can cause irreversible brain damage by compromising the blood–brain barrier (BBB), leading to fatal [...] Read more.
Cerebral cavernous malformations (CCMs) are abnormal expansions of brain capillaries that increase the risk of hemorrhagic strokes, with CCM1 mutations responsible for about 50% of familial cases. The disorder can cause irreversible brain damage by compromising the blood–brain barrier (BBB), leading to fatal brain hemorrhages. Studies show that progesterone and its derivatives significantly impact BBB integrity. The three CCM proteins (CCM1, CCM2, and CCM3) form the CCM signaling complex (CSC), linking classic and non-classic progesterone signaling within the CmPn network, which is crucial for maintaining BBB integrity. This study aimed to explore the relationship between CCM1 and key pathways of the CmPn signaling network using three mouse embryonic fibroblast lines (MEFs) with distinct CCM1 expressions. Omics and systems biology analysis investigated CCM1-mediated signaling within the CmPn network. Our findings reveal that CCM1 is essential for regulating cellular processes within progesterone-mediated CmPn/CmP signaling, playing a crucial role in maintaining microvessel integrity. This regulation occurs partly through gene transcription control. The critical role of CCM1 in these processes suggests it could be a promising therapeutic target for CCMs. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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11 pages, 262 KiB  
Article
Non-Invasive Assessment of Micro- and Macrovascular Function after Initiation of JAK Inhibitors in Patients with Rheumatoid Arthritis
by Panagiota Anyfanti, Elena Angeloudi, Athanasia Dara, Eleni Pagkopoulou, Georgia-Savina Moysidou, Kleopatra Deuteraiou, Maria Boutel, Eleni Bekiari, Michael Doumas, George D. Kitas and Theodoros Dimitroulas
Diagnostics 2024, 14(8), 834; https://doi.org/10.3390/diagnostics14080834 - 17 Apr 2024
Cited by 3 | Viewed by 1438
Abstract
Background: Janus kinase (JAK) inhibitors constitute a novel class of oral biologic disease-modifying antirheumatic drugs for patients with rheumatoid arthritis (RA). However, their use has been associated with increased risk of major cardiovascular events. We investigated whether treatment with JAK inhibitors exerts significant [...] Read more.
Background: Janus kinase (JAK) inhibitors constitute a novel class of oral biologic disease-modifying antirheumatic drugs for patients with rheumatoid arthritis (RA). However, their use has been associated with increased risk of major cardiovascular events. We investigated whether treatment with JAK inhibitors exerts significant alterations in the micro- and microvasculature in RA patients. Methods: Thirteen patients with RA initiating treatment with JAK inhibitors were prospectively studied. Eventually, data from 11 patients who completed the study were analyzed. Procedures were performed at baseline and 3 months after treatment. Nailfold videocapillaroscopy was applied to detect alterations of the dermal capillary network. Participants underwent 24 h ambulatory blood pressure monitoring (Mobil-O-Graph device) for the assessment of blood pressure (both brachial and aortic) and markers of large artery stiffening [pulse wave velocity (PWV), augmentation index] throughout the whole 24 h and the respective day- and nighttime periods. Carotid intima–media thickness was assessed with ultrasound. Results: Three-month treatment with JAK inhibitors was not associated with any differences in brachial and aortic blood pressure, arterial stiffness, and carotid atherosclerosis, with the only exception of nighttime PWV, which was significantly elevated at follow-up. However, three-month treatment with JAK inhibitors induced significant microvascular alterations and increased the total number of capillaroscopic abnormalities. Conclusions: Three-month treatment with JAK inhibitors may exert significant effects on microcirculation as assessed with nailfold videocapillaroscopy, whereas macrovascular structure and function appears largely unaffected. Further research toward this direction may add substantial information to the available literature regarding cardiovascular aspects of JAK inhibitors in RA. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
15 pages, 2442 KiB  
Article
mTOR Pathway Substrates Present High Activation in Vascular Malformations and Significantly Decrease with Age
by Jakub Kopeć, Elżbieta Sałacińska-Łoś, Magdalena Orzechowska, Monika Sokolnicka, Aleksandra Gawłowska-Marciniak and Przewratil Przemysław
Diagnostics 2024, 14(1), 38; https://doi.org/10.3390/diagnostics14010038 - 25 Dec 2023
Viewed by 1375
Abstract
Background: Vascular anomalies often result in aesthetic flaws, pain, and impair the quality of life. They require challenging treatments that frequently do not provide the desired results. The mammalian target of rapamycin (mTOR) is directly involved in the development of these malformations. However, [...] Read more.
Background: Vascular anomalies often result in aesthetic flaws, pain, and impair the quality of life. They require challenging treatments that frequently do not provide the desired results. The mammalian target of rapamycin (mTOR) is directly involved in the development of these malformations. However, the exact mechanism behind mTOR dysregulation has not been unambiguously defined. The purpose of this study is to investigate the activation of selected substrates of mTOR to partially assess its involvement in the disease process. Methods: We analyzed tissue samples collected from patients with vascular anomalies treated in our department. We included patients with histopathological diagnoses of lymphatic, venous, capillary malformations, mixed lesions, and a control group of healthy skin samples. We stained the samples using H and E and immunohistochemistry. We used primary antibodies against p70 S6 Kinase, 4EBP1, and p-4EBP1. We graded their color reactions. The statistical analyses were performed using the FactoMineR and factoextra R v.4.1 packages. p-values < 0.05 were considered statistically significant. Results: The analysis of 82 patients showed that healthy tissue vessels expressed lower levels of tested mTOR pathway substrates compared to high activation in vascular malformations. Elevated substrate expression in a comparison between sexes revealed higher P-4EBP1 expression in the female malformation group. We observed a decrease in mTOR substrate expression with age. Conclusion: The higher expression of mTOR substrates in vascular malformations compared to healthy tissue confirms their involvement in abnormal vascular development. Age-related changes in mTOR substrate expression highlight the need for timely intervention. Our study contributes to the understanding of the mTOR signaling pathway in vascular malformations and highlights its potential as a therapeutic target, contributing to personalized medicine. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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Review

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23 pages, 757 KiB  
Review
Beyond the Heart: The Predictive Role of Coronary Artery Calcium Scoring in Non-Cardiovascular Disease Risk Stratification
by Viviana Cortiana, Hetvee Vaghela, Rahul Bakhle, Tony Santhosh, Oroshay Kaiwan, Aalia Tausif, Ashish Goel, Mohammed K. Suhail, Neil Patel, Omar Akram, Nirja Kaka, Yashendra Sethi and Arsalan Moinuddin
Diagnostics 2024, 14(21), 2349; https://doi.org/10.3390/diagnostics14212349 - 22 Oct 2024
Viewed by 973
Abstract
Coronary artery calcium scoring (CACS), a non-invasive measure of coronary atherosclerosis, has significantly enhanced cardiovascular (CV) risk assessment and stratification in asymptomatic individuals. More recently, a higher score for CAC has been associated with an increased risk of non-CV diseases and all-cause mortality. [...] Read more.
Coronary artery calcium scoring (CACS), a non-invasive measure of coronary atherosclerosis, has significantly enhanced cardiovascular (CV) risk assessment and stratification in asymptomatic individuals. More recently, a higher score for CAC has been associated with an increased risk of non-CV diseases and all-cause mortality. This review consolidated evidence supporting the role of CAC in assessing non-CV diseases, emphasizing its potential in early diagnosis and prognosis. We observed a strong association between CACS and non-CV diseases, viz., chronic obstructive pulmonary disease, pulmonary embolism, pneumonia, diabetes, chronic kidney disease, osteoporosis, metabolic dysfunction-associated steatotic liver disease, nephrolithiasis, stroke, dementia, malignancies, and several autoimmune diseases. Also, CAC may aid in evaluating the risk of CV conditions developing secondary to the non-CV diseases mentioned earlier. Further evidence from prospective studies, intervention trials, and population-based behavioral studies is needed to establish CAC cutoff values and explore preventative care applications, facilitating their broader integration into healthcare practices. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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16 pages, 2884 KiB  
Review
New Insights into the Pathophysiology of Coronary Artery Aneurysms
by Iris Bararu-Bojan, Oana-Viola Badulescu, Minerva Codruta Badescu, Maria Cristina Vladeanu, Carmen Elena Plesoianu, Andrei Bojan, Dan Iliescu-Halitchi, Razvan Tudor, Bogdan Huzum, Otilia Elena Frasinariua and Manuela Ciocoiu
Diagnostics 2024, 14(19), 2167; https://doi.org/10.3390/diagnostics14192167 - 29 Sep 2024
Viewed by 1618
Abstract
Coronary aneurysms are typically defined as sections of a coronary artery where the diameter is more than 1.5 times that of an adjacent normal segment. In rare circumstances, these aneurysms can become exceedingly large, leading to the classification of giant coronary artery aneurysms. [...] Read more.
Coronary aneurysms are typically defined as sections of a coronary artery where the diameter is more than 1.5 times that of an adjacent normal segment. In rare circumstances, these aneurysms can become exceedingly large, leading to the classification of giant coronary artery aneurysms. Despite their occurrence, there is no clear consensus on the precise definition of giant coronary artery aneurysms, and their etiology remains somewhat ambiguous. Numerous potential causes have been suggested, with atherosclerosis being the most prevalent in adults, accounting for up to 50% of cases. In pediatric populations, Kawasaki disease and Takayasu arteritis are the primary causes. Although often discovered incidentally, coronary artery aneurysms can lead to severe complications. These complications include local thrombosis, distal embolization, rupture, and vasospasm, which can result in ischemia, heart failure, and arrhythmias. The optimal approach to medical, interventional, or surgical management of these aneurysms is still under debate and requires further clarification. This literature review aims to consolidate current knowledge regarding coronary artery aneurysms’ pathophysiology, emphasizing their definition, causes, complications, and treatment strategies. Recent research has begun to explore the molecular mechanisms involved in the formation and progression of coronary artery aneurysms. Various molecules, such as matrix metalloproteinases (MMPs), inflammatory cytokines, and growth factors, play crucial roles in the degradation of the extracellular matrix and the remodeling of vascular walls. Elevated levels of MMPs, particularly MMP-9, have been associated with the weakening of the arterial wall, contributing to aneurysm development. Inflammatory cytokines such as tumor necrosis factor-alpha (TNF-α) and interleukins (IL-1β and IL-6) have been implicated in promoting inflammatory responses that further degrade vascular integrity. Additionally, growth factors such as vascular endothelial growth factor (VEGF) may influence angiogenesis and vascular remodeling processes. Understanding these molecular pathways is essential for developing targeted therapies aimed at preventing the progression of coronary artery aneurysms and improving patient outcomes. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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16 pages, 1147 KiB  
Review
Radial Artery Spasm—A Review on Incidence, Prevention and Treatment
by Adrian Sebastian Zus, Simina Crișan, Silvia Luca, Daniel Nișulescu, Mihaela Valcovici, Oana Pătru, Mihai-Andrei Lazăr, Cristina Văcărescu, Dan Gaiță and Constantin-Tudor Luca
Diagnostics 2024, 14(17), 1897; https://doi.org/10.3390/diagnostics14171897 - 29 Aug 2024
Viewed by 967
Abstract
Radial artery spasm (RAS) is a common complication associated with transradial access (TRA) for coronary interventions, particularly affecting elderly patients in whom radial access is preferred due to its benefits in reducing bleeding complications, improving clinical outcomes, and lowering long-term costs. This review [...] Read more.
Radial artery spasm (RAS) is a common complication associated with transradial access (TRA) for coronary interventions, particularly affecting elderly patients in whom radial access is preferred due to its benefits in reducing bleeding complications, improving clinical outcomes, and lowering long-term costs. This review examines the incidence, prevention, and treatment of RAS. Methods included an online search of PubMed and other databases in early 2024, analyzing meta-analyses, reviews, studies, and case reports. RAS is characterized by a sudden narrowing of the radial artery due to psychological and mechanical factors with incidence reports varying up to 51.3%. Key risk factors include patient characteristics like female sex, age, and small body size as well as procedural factors such as emergency procedures and the use of multiple catheters. Preventive measures include using distal radial access, hydrophilic sheaths, and appropriate catheter sizes. Treatments involve the intraarterial administration of nitroglycerine and verapamil as well as mechanical methods like balloon-assisted tracking. This review underscores the need for standardizing RAS definitions and emphasizes the importance of operator experience and patient management in reducing RAS incidence and improving procedural success. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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18 pages, 1930 KiB  
Review
Hereditary Thoracic Aortic Diseases
by Gaia Spaziani, Francesca Chiara Surace, Francesca Girolami, Francesco Bianco, Valentina Bucciarelli, Francesca Bonanni, Elena Bennati, Luigi Arcieri and Silvia Favilli
Diagnostics 2024, 14(1), 112; https://doi.org/10.3390/diagnostics14010112 - 4 Jan 2024
Viewed by 1894
Abstract
Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and [...] Read more.
Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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Other

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11 pages, 6253 KiB  
Case Report
The Microsurgical Resection of an Arteriovenous Malformation in a Patient with Thrombophilia: A Case Report and Literature Review
by Corneliu Toader, Felix-Mircea Brehar, Mugurel Petrinel Radoi, Matei Serban, Razvan-Adrian Covache-Busuioc, Luca-Andrei Glavan, Alexandru Vlad Ciurea and Nicolaie Dobrin
Diagnostics 2024, 14(23), 2613; https://doi.org/10.3390/diagnostics14232613 - 21 Nov 2024
Viewed by 261
Abstract
Background/Objectives: Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. Methods: The patient [...] Read more.
Background/Objectives: Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. Methods: The patient presented with a right paramedian intraparenchymal frontal hematoma, left hemiparesis, and seizures. Cerebral angiography identified a ruptured right parasagittal frontal AVM classified as Spetzler–Martin Grade II. A right interhemispheric frontal craniotomy was performed, enabling microsurgical resection of the AVM. Intraoperative findings included evacuation of a subcortical hematoma and excision of a 20 mm AVM nidus with arterial feeders from the A4 segment of the anterior cerebral artery and a single venous drainage into the superior sagittal sinus. Results: Postoperative recovery was favorable, with significant neurological improvement. The patient demonstrated resolution of hemiparesis and a marked reduction in seizure activity. The hypercoagulable state associated with Prothrombin G20210A mutation was identified as a contributing factor in the thrombosis of the AVM’s draining vein, potentially leading to increased venous pressure, rupture, and hemorrhage. Conclusions: This case underscores the importance of recognizing thrombophilia in patients with AVMs for optimal surgical planning and complication management. Despite the challenges posed by the hypercoagulable condition, microsurgical resection proved to be a viable and effective treatment option. Further research is warranted to elucidate the relationship between thrombophilic disorders and AVMs to enhance patient management strategies and outcomes. Full article
(This article belongs to the Special Issue Vascular Malformations: Diagnosis and Management)
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