Congenital Vascular Anomalies Research Articles

THSD1 Is a Multifaceted Regulator in Health and Disease

Thrombospondin Type 1 Domain-Containing Protein 1 (THSD1) is a transmembrane protein increasingly recognized for its critical roles in vascular biology and disease pathogenesis. Initially identified as a marker of hematopoietic stem and endothelial cells during embryogenesis, THSD1 has since been implicated in a wide spectrum of physiological and pathological processes. This paper consolidates current knowledge on THSD1, with a focus on its roles in vascular integrity, perinatal disorders, and tumorigenesis. In vascular systems, THSD1 promotes focal adhesion assembly and suppresses autophagy-mediated adhesion turnover, thereby stabilizing endothelial attachment and maintaining barrier function. Genetic and functional studies support its protective role against intracranial aneurysms and hemorrhagic vascular disorders. THSD1 mutations have also been linked to perinatal disorders such as nonimmune hydrops fetalis and congenital vascular anomalies, suggesting a broader role in embryonic vascular patterning. Moreover, emerging evidence indicates that THSD1 acts as a tumor and metastasis suppressor, with potential anti-angiogenic properties, although its role in cancer remains to be fully defined. This paper not only consolidates existing knowledge but also identifies critical research gaps, providing a robust foundation for future investigations into the biology and clinical relevance of THSD1.

An unexpected turn: Posterior reversible encephalopathy syndrome following microsurgical resection of a brain arteriovenous malformation

Background: Cerebral arteriovenous malformations (AVMs) are rare congenital vascular anomalies, often presenting with intracranial hemorrhage or seizures. Posterior reversible encephalopathy syndrome (PRES) is a distinct neurological condition characterized by vasogenic edema, primarily affecting posterior brain regions and typically associated with hypertensive crises, eclampsia, or immunosuppressive therapies. However, its occurrence following neurosurgical interventions is exceptionally rare. This case report documents the first instance of PRES following the resection of a Spetzler-Martin grade I frontal AVM, emphasizing the importance of early recognition and management of this rare complication. Case Description: A 27-year-old woman underwent navigation-assisted resection of a right frontal AVM. The procedure was uneventful; however, in the immediate postoperative period, she experienced a generalized tonic-clonic seizure, agitation, dysconjugate gaze, and altered consciousness. Brain magnetic resonance imaging revealed diffuse high fluid-attenuated inversion recovery signal abnormalities in the brainstem, cerebellum, thalami, basal ganglia, and cerebral hemispheres, consistent with central PRES. The patient was managed with supportive care, resulting in a full clinical and radiographic recovery within 3 weeks. Follow-up imaging confirmed the resolution of PRES-related changes, and she remained seizure-free after antiseizure medication tapering. Conclusion: This case underscores the critical importance of early neuroimaging in evaluating unexpected postoperative neurological symptoms. Recognizing central PRES and its atypical radiographic patterns enables timely diagnosis and appropriate management, avoiding unnecessary interventions. The pathophysiology likely involves postoperative endothelial dysfunction and disrupted autoregulation. This report underscores the importance of considering PRES in postoperative neurological complications and calls for further research into its mechanisms and optimal management.

Video-assisted thoracoscopic lobectomy for a patient with rare partial anomalous pulmonary vein connection: Case report.

Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital vascular anomaly that often remains undetected in asymptomatic patients. While most cases are hemodynamically insignificant, failure to recognize PAPVC preoperatively may lead to intraoperative misidentification and surgical complications. Coexistence of PAPVC and lung cancer, particularly on the ipsilateral side, is extremely rare and poses challenges for surgical decision-making. A 55-year-old man, asymptomatic and uncharacteristic in his past medical history, presented with an abnormal shadow in the left lower lobe during a regular checkup. Pulmonary sarcomatoid carcinoma, partial anomalous pulmonary vein connection. The patient underwent video-assisted thoracoscopic left lower lobectomy without surgical correction of the PAPVC. The patient remained in good health at the 14-month follow-up. In patients with ipsilateral PAPVC and no evidence of hemodynamic compromise, anatomical lobectomy alone may be a safe and effective surgical option without the need for venous correction.

Knowledge, attitudes, and practices on hemangioma among parents of infantile hemangioma patients in South China

This study investigated the knowledge, attitudes, and practices (KAP) of parents of infantile hemangioma (IH) patients in South China through a cross-sectional survey conducted from November 2023 to March 2024. A structured questionnaire was administered to 511 participants, with 63.01% being female. The mean scores reflected inadequate knowledge (5 out of 9), generally positive attitudes (45 out of 55), and relatively inactive practices (24 out of 40). Direct effect analysis indicated that the number of consultations (β = 0.464, P = 0.012) and the presence of congenital vascular anomalies or metabolic disorders (β = 0.085, P = 0.029) positively influenced parental knowledge. Knowledge significantly affected attitudes (β = 0.509, P = 0.011), while both attitudes (β = 0.436, P = 0.018) and congenital conditions (β = − 0.189, P = 0.007) impacted practices. Additionally, consultations and congenital conditions indirectly influenced attitudes (β = 0.236, P = 0.012) and practices (β = 0.222, P = 0.011). The findings highlight the need for targeted educational interventions to enhance parental understanding and engagement in managing IH effectively.

Pre-papillary arterial loop in ocular hypertension: a rare association.

Pre-papillary vascular loop (PVL) is a rare congenital retinal vascular anomaly, often underdiagnosed due to its asymptomatic nature. Originating from retinal arteries or veins, PVL may lead to complications such as branch retinal artery occlusion (BRAO). This case report describes a man in his 60s presenting with sudden-onset vision loss in the left eye, diagnosed with BRAO secondary to a pre-papillary arterial loop, alongside ocular hypertension and their management. Differentiating BRAO-induced retinal nerve fibre layer (RNFL) defects from glaucomatous changes was challenging due to overlapping clinical and visual field findings. This case highlights the diagnostic complexity of PVL, particularly in distinguishing it from early glaucoma. Meticulous evaluation is crucial to avoid misdiagnosis and ensure appropriate management in such rare presentations.

Single-cell and spatial transcriptomic analyses reveal transcriptional cell lineage heterogeneity in extracranial arteriovenous malformation.

Single-cell and spatial transcriptomic analyses reveal transcriptional cell lineage heterogeneity in extracranial arteriovenous malformation.

Functional network reorganization and memory impairment in unruptured brain arteriovenous malformations.

Brain arteriovenous malformations (AVMs) are congenital vascular anomalies that can affect cognitive, particularly memory functions. However, the underlying mechanisms of neurocognitive abnormalities in unruptured AVMs remain unclear. This study aimed to explore spontaneous functional network reorganization associated with memory impairment in unruptured AVM patients using resting-state functional MRI (rsfMRI). Using rsfMRI data, we compared functional activity and connectivity patterns between 25 AVM patients and healthy controls, including regional homogeneity (ReHo), fractional amplitude of low-frequency fluctuations (fALFF), seed-based functional connectivity (FC), and lesion network mapping. Correlation analysis was performed to clarify the relationship between these parameters and memory performance in AVM patients. We identified memory-related spontaneous functional network reorganization in AVM patients, particularly involving the somatomotor network (SMN), frontoparietal control network (FPN), and default mode network (DMN). Subgroup analyses based on lesion location (frontal vs. non-frontal) and laterality (left vs. right) revealed location-dependent differences in connectivity reorganization. In particular, left-sided AVMs showed disrupted FC within the SMN, correlated with working memory and executive function, while right-sided and frontal AVMs exhibited more complex patterns involving multiple networks. Moreover, functional disconnection maps indicated that AVM lesions did not directly impair resting-state memory networks. Patients with unruptured AVMs exhibit resting-state memory network reorganization, which is closely related to the lesion location. These findings highlight the functional network alterations in AVM patients and suggest the potential neural mechanisms underlying memory deficits.

Optimizing treatment selection in venous malformations through imaging-assisted sequential therapy: a case series analysis.

Optimizing treatment selection in venous malformations through imaging-assisted sequential therapy: a case series analysis.

In vitro characterisation of the patient-specific haemodynamics of an extracranial peripheral arteriovenous malformation using PIV.

In vitro characterisation of the patient-specific haemodynamics of an extracranial peripheral arteriovenous malformation using PIV.

Bilateral nevus of Ota in association with nevus flammeus: a case report.

Nevus of Ota and nevus flammeus are distinct congenital pigmentary and vascular anomalies, respectively, with different etiologies and clinical implications. While both conditions can present unilaterally, their bilateral coexistence is rare. We report a 39-year-old Filipino female with a medical history of type 2 diabetes mellitus and dyslipidemia who presented to the dermatology clinic with concerns over a newly appearing benign nevus on the sole of her hand. Incidentally, dermatological examination revealed two significant congenital pigmentary lesions: bilateral nevus of Ota and a widespread port-wine stain. The nevus of Ota manifested as well-defined blue-gray macules and patches symmetrically distributed across her face, involving both nasal nostrils and conjunctiva. The nevus flammeus, a congenital vascular malformation, extended over both arms, the upper back, and the chest, presenting as a well-demarcated reddish-purple discoloration. These lesions had been present since birth, remained asymptomatic, and had never been previously evaluated. No systemic involvement was detected, and laboratory investigations were unremarkable. The diagnosis was made clinically. As the patient was not interested in treating the nevi, no treatment was planned. This case highlights the importance of obtaining a detailed family history in all similar cases to aid in understanding the genetic basis of these conditions and their potential coexistence with other congenital dermal anomalies.

SURGICAL TREATMENT OF OBLITATING LESION OF THE LOWER LIMB VESSELS ASSOCIATED WITH A RARE ANOMALY OF THE INFERIOR VENA CAVA SYSTEM AND LOWER LIMB VEINS ACCORDING TO DOPPLEROGRAPHY ULTRASOUND DATA (CLINICAL CASES)

Familiarity with the different variants of the inferior vena cava and lower extremity veins plays a crucial role in ultrasound examination. Vascular anomalies, although rare, should be considered when planning surgical treatment in patients with lower extremity vascular pathology. Anomalies of the inferior vena cava (IVC) are relatively rare. They should be identified before planned vascular surgery due to the risk of complications. The described cases serve as a valuable addition to the knowledge of the vascular system that physicians use in their daily practice when performing diagnostic ultrasound examinations. Aim. To demonstrate rare variants of the clinical course of surgical treatment of two patients with atherosclerotic lesions of the aortoiliac segment and congenital anomalies of the inferior vena cava. Material and methods. An analysis of clinical observations (cases) of surgical treatment for atherosclerosis of the aortoiliac segment and arteries of the lower extremities in patients with congenital anomalies of the venous system of the lower extremities, namely the inferior vena cava (IVC), was conducted. Both patients underwent right-sided aortodeep femoral bypass with a synthetic prosthesis and the main blood flow was restored. Congenital anomalies of the IVC must be remembered and taken into account not only intraoperatively, but also at the stage of instrumental diagnostics of vascular pathology when planning reconstructive operations in patients with chronic pathology of the vessels of the lower extremities. Research results and discussion. The two clinical cases presented serve as evidence of the possibility of successful reconstructive surgery for atherosclerotic lesions of the aortoiliac segment in patients with concomitant congenital anomalies of the IVC. Ultrasound has high sensitivity and specificity in detecting DVT (97 and 94 %, respectively) and allows you to visualize the IVC practically along its entire length. Additional instrumental non-invasive diagnostic methods in patients with atherosclerosis of the aortoiliac segment and peripheral arteries allow you to obtain the maximum possible amount of information about the localization and prevalence of pathological changes in the arterial bed, as well as for preoperative assessment of the condition of the IVC and the detection of congenital vascular anomalies. Variants of individual anatomical features of the structure and location of the IVC must be taken into account when planning reconstructive operations on the abdominal aorta and iliac arteries. Accurate preoperative knowledge of the anatomy of the IVC and its tributaries allows avoiding iatrogenic damage to these vessels during unilateral aorto-deep femoral bypass with a synthetic prosthesis. Conclusions. Careful collection of anamneses in patients of this group and performance of ultrasound Dopplerography of the vessels of the lower extremities allowed to establish the correct diagnosis in the preoperative period. Understanding by specialists of the possibilities of ultrasound of the vessels of the lower extremities, as well as compliance with the full protocol of the study during ultrasound Dopplerography allows to provide detailed information in order to determine the most effective treatment tactics and to prevent complications of the disease.

Resolution of Exercise-Induced Syncope After Stenting of the Azygos Vein in a Dog with Segmental Aplasia and Azygos Continuation of the Levopositioned Caudal Vena Cava

A 1-year-old Maltese–Poodle mixed breed dog was referred to the cardiology service because of severe exercise intolerance and daily exercise-induced syncopal episodes. Physical examination revealed no abnormalities. Echocardiography showed intermittent underfilling of the heart. Abdominal ultrasound examination revealed a segmental aplasia of the caudal vena cava between the kidneys and the liver, and azygos continuation of the cava. The azygos vein dorsal to the right kidney showed a severe aneurysm with stasis of blood. Computed tomographic angiography showed that the right crus of the diaphragm was probably responsible for the intermittent compression of the dilated azygos vein, which was thought to have subsequently led to insufficient venous return to the heart. The underfilled ventricles could not produce sufficient cardiac output, which caused the assumed cerebral hypoperfusion due to presumed systemic arterial hypotension. Under general anesthesia a self-expanding nitinol stent was implanted into the azygos vein at the level of the diaphragm. All clinical signs resolved immediately after surgery. The dog remained free from clinical signs (6 months after surgery). This is the first report that describes the successful treatment of this congenital vascular anomaly. Ultrasonography of the caudal vena cava should be performed in dogs with unexplained syncope.

Tracheal Compression by Aberrant Innominate Artery: A Case Report

The brachiocephalic trunk arises from the convexity of the aortic arch, posterior to the manubrium sterni. In rare cases, the origin of the brachiocephalic trunk is shifted to the left of the midline, crosses the trachea through an oblique course, and rises upwards. Sometimes this aberrant artery due to an anomalous course can cause a triad of symptoms consisting of cough, stridor, and occasional apnoea known as innominate artery compression syndrome. Here one such case is presented in which, a nine-monthold infant presented with complaints of recurrent cough and noisy breathing since 10 days of age. The infant had a history of frequent hospital admissions for cough since one month of age where he was given nebulisation but with only partial response. A bronchoscopy was done which was suggestive of mid-tracheal compression. Contrast-Enhanced Computed Tomography (CECT) chest confirmed the diagnosis and the child was then referred to a cardiac surgeon for further management. It is important to note that compression of the trachea or tracheobronchial tree by congenital vascular anomalies is not an uncommon cause of stridor and should always be considered a differential diagnosis while evaluating such cases.

Spetzler-Martin grade I and II cerebral arteriovenous malformations: a propensity-score matched analysis of resection and stereotactic radiosurgery in adult patients

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability between treatment groups. After PSM, 90 patients were allocated to each treatment group. Significant differences were observed in complete obliteration rates, with resection achieving higher rates compared to SRS in overall cases (97.8% vs. 60.0%, p < 0.001), unruptured AVMs (100% vs. 58.3%, p < 0.001), and ruptured AVMs (95.2% vs. 61.9%, p < 0.001). Functional improvement rates were similar between the groups for overall cases (67.2% in resection vs. 66.7% in SRS, p = 0.95), unruptured AVMs (55.2% in resection vs. 55.6% in SRS, p > 0.9), and ruptured AVMs (78.1% in resection vs. 74.1% in SRS, p = 0.7). Symptomatic complication rates were identical between the groups (11.1% each, p > 0.9), while permanent complication rates were comparable (6.7% in resection vs. 5.6% in SRS, p = 0.8). Resection demonstrated significantly higher complete obliteration rates compared to SRS across all cases, including unruptured and ruptured AVMs. Functional improvement rates were similar between the two treatment groups, with no significant differences in symptomatic or permanent complication rates. Graphical

A Rare Case of External Ear Arteriovenous Malformation Treated with Linac Based Radiosurgery

&amp;lt;i&amp;gt;Background: &amp;lt;/i&amp;gt;Arteriovenous malformation (AVM) is a congenital vascular anomaly in which there are abnormal connections between arteries and veins in the form of fistula or nidus without an intervening capillary bed. External ear AVMs can cause swelling, redness, bleeding, and pain. Timely diagnosis and treatment are crucial to prevent complications. According to literature, there are different techniques to treat auricular AVM which include surgical excision followed by ear reconstruction, sclerotherapy and embolization. Stereotactic radiosurgery (SRS) has an established role in treating intracranial AVM with excellent obliteration rates but limited literature exists on its efficacy in treating auricular AVM in terms of obliteration rates and cosmetic outcome. &amp;lt;i&amp;gt;Case Presentation&amp;lt;/i&amp;gt;: We report a rare case of right external ear AVM which was post embolization and post excision followed by reconstruction but had persistent residual nidus in right pinna treated by stereotactic radiosurgery. He was treated to a dose of 21 Gy in 3 fractions at 7 Gy per fraction for 3 consecutive days. He had completed treatment without any complications. Follow up after 2 weeks of treatment, clinically, patient had redness, swelling and persistent pulsations but no episode of bleeding. At the six-month follow-up, redness, swelling, and pulsations had decreased. Follow up after 1 year post treatment, clinically, redness, swelling and pulsations were not present. Dynamic Brain MRI with angiography showed complete obliteration of residual AVM nidus in right pinna. Patient was satisfied with the cosmetic outcome. &amp;lt;i&amp;gt;Conclusion&amp;lt;/i&amp;gt;: We conclude that stereotactic radiosurgery can be used as an effective treatment modality for auricular AVMs. In our case, radiosurgery provided an excellent control and obliteration of the nidus and good cosmetic result eliminating the need for surgical reconstruction at the site of the nidus.

Exploring Lymphangioma: A Synthesis of the Literature and Clinical Perspectives

Lymphatic malformations (LMs) are benign, congenital vascular anomalies caused by abnormal lymphangiogenesis during embryology, often presenting as fluid-filled cystic lesions. Though LMs can affect any part of the body except the brain, they primarily manifest in the head and neck or axilla regions of children. With a prevalence of approximately 1 in 4000 births, LMs are commonly diagnosed by age two, with symptoms varying based on lesion location and size. This paper reviews the classification of LMs and discusses the de Serres staging system, which aids in assessing prognosis based on lesion site. Mutations in the (PIK3CA) gene are implicated in most cases, and LMs are also associated with syndromic conditions like Turner and Noonan syndromes. They are diagnosed by ultrasound (USS) or magnetic resonance imaging (MRI), while a histologic analysis can confirm lymphatic origin. Treatment options range from conservative approaches, such as observation, to sclerotherapy, pharmacotherapy, and surgery. Sclerotherapy, particularly with agents like OK-432, bleomycin, and doxycycline, has shown significant efficacy in reducing LM size and symptoms with minimal side effects. Pharmacological therapies, such as sirolimus, that target the mTOR pathway are also increasingly being used, with a good effect on the burden of disease. While surgical excision remains a choice for symptomatic or large lesions, minimally invasive approaches are often preferred due to lower morbidity. Emerging techniques include gravity-dependent sclerotherapy, electrosclerotherapy, alpelisib, everolimus, and Wnt/β-catenin pathway stimulators (e.g., tankyrase inhibitors, porcupine inhibitors). Computational atomistic molecular dynamics (MD) and density functional tight binding (DFTB) techniques may offer an experimental approach to future therapeutic targets. This paper highlights a multidisciplinary approach to LM management, emphasising individualised treatment based on lesion characteristics and patient needs.

A Rare Case of Facial Arteriovenous Malformation in a 3-Year-Old Female.

Arteriovenous malformation (AVM) is a rare congenital vascular anomaly involving abnormal artery-vein connections that bypass the capillary system. AVMs are particularly uncommon in young children. A 3-year-old girl presented with a painless, progressively enlarging left cheek swelling since birth. Clinical examination showed left facial asymmetry with a nontender, pulsatile mass in the left parotid region without skin changes or visible collateral vessels. Computed tomography angiography revealed an enhancing mass in the left parotid region with feeding and draining vessels. The patient was referred to vascular surgery for further management. AVM's rarity in pediatrics highlights the need for further research in genetic and developmental factors, aiming to improve early detection, management, and outcomes for affected children.

Bleomycin sclerotherapy for venous vascular malformations of the tongue

BackgroundVenous vascular malformations (VVMs) are congenital vascular anomalies, often impacting quality of life due to discomfort, swelling, and functional impairments. This study evaluates the efficacy of bleomycin sclerotherapy as a...

Abernethy Malformation with Pulmonary Arteriovenous Malformations in a Pediatric Patient: An Anesthetic Challenge

Abernethy malformation is a rare congenital vascular anomaly of the splanchnic venous system, leading to portosystemic shunting and related symptoms. A 7-month-old child was admitted with cyanosis and respiratory distress. Echocardiography revealed dilated biatrium and left superior vena cava into the coronary sinus. A bubble contrast study suggested pulmonary arteriovenous malformation (AVM) necessitating cardiac catheterization study for embolization. The child was induced with fentanyl, ketamine, and vecuronium after preoxygenation. Hypothermia prevention and measures to address pulmonary venous resistance including air embolism were implemented. The study confirmed bilateral pulmonary AVM and Type 1b Abernethy malformation. Given the complexity of the procedure, the parents were counseled for liver transplant. The management focuses on hemodynamic stability, to mitigate air embolism, counteract intraoperative pulmonary hypertension, and ensure adequate anesthesia and analgesia.

Port-wine stain treatment with 577-nm laser: Treatment outcomes of superficial versus deep lesions

Background: Port-wine stains (PWS), or capillary malformations (CM), are congenital vascular anomalies characterized by gradual enlargement of the superficial cutaneous vascular plexus, leading to low-flow malformations in the skin. Laser therapy remains the preferred treatment for PWS. The 577-nm vascular laser system is particularly suited for treating cutaneous vascular disorders. This study evaluates the efficacy of the 577-nm vascular laser for both superficial and deep PWS lesions. Case Illustration: Three adult patients, all aged over 17 years old, were trseated with the 577-nm laser. In the first case with deeper PWS, four treatment sessions resulted in flattening of hypertrophic areas, leaving residual red patches. In the second case, complete clearance of the PWS was achieved after eight treatment sessions. In the third case, additional treatment with the 577-nm laser was administered after a device targeting deeper vascular structures was employed. Discussion: The 577-nm vascular laser is safe for use in dark-skinned patients, with a short downtime and low risk of scarring and post-inflammatory erythema. For lesions deeper than 0.8 mm, other treatment modalities should be considered. Early intervention can help prevent the development of hypertrophic or nodular components. Multiple 577-nm laser sessions can minimize progression and provide significant improvement. Treatment success depends on clinical conditions, appropriate laser parameters, and timing. Conclusion: The 577-nm vascular laser is effective and safe for treating PWS, particularly in dark-skinned individuals. Early intervention and multiple sessions are the key to preventing progression and achieving optimal results. Deeper lesions may require alternative laser modalities.