Unraveling fetal venous disorders: An integrated approach in fetal echocardiography and their clinical significance.

OBJECTIVE: Fetal venous system malformations frequently coincide with cardiac or extracardiac anomalies. This study explores our experience with an integrated fetal echocardiography approach and analyzes the characteristics and outcomes of fetal venous system disorders. MATERIALS AND METHODS: We conducted a retrospective study with 7048 pregnant women (7255 fetuses) who underwent complete two-dimensional (2D) fetal echocardiographic examinations. We primarily employed an integrated 2D approach. Three-/four-dimensional (3D/4D) spatiotemporal image correlation was supplemental. Fetal venous disorders were classified into 3 groups: cardinal (Group 1), umbilical and vitelline (Group 2), and pulmonary (Group 3) systems, based on embryological-anatomical considerations. Maternofetal data were recorded alongside imaging diagnoses. RESULTS: Congenital venous malformations were identified in 98 fetuses, yielding a prevalence of 1.35% (98/7255). Six participants had coexisting venous disorders from different groups. Group 1 included 48 fetuses with persistent left superior vena cava (LSVC) and 3 others (unidentified brachiocephalic vein, left inferior vena cava (IVC), and interrupted IVC with azygous continuation to SVC). Group 2 had 39 fetuses with persistent right umbilical vein and 7 with umbilical-portal-ductus venosus disorders. Group 3 had 7 fetuses with pulmonary venous return disorders. Group 2 showed the most favorable outcomes (alive and without neonatal death), while Group 3 exhibited the poorest. Associated cardiac defects were observed in 43.1% of Group 1, 8.7% of Group 2, and 57.1% of Group 3 (P < 0.001), displaying a broad spectrum of non-specific anomalies. Meanwhile, Group 2 had a greater occurrence of a single venous disorder (93.5%) compared to Group 1 (88.2%) and Group 3 (57.1%) (P = 0.020). CONCLUSION: Our approach offers an integrated strategy for assessing the fetal venous system during fetal echocardiography, providing multiple views to characterize venous anomalies. The presence of a fetal venous disorder may indicate the coexistence of more severe abnormalities, and the prognosis depends on associated anomalies or the venous disorders per se.

Refractory Iron-Deficiency Anemia and Vascular Malformation Concomitant with Aortic Stenosis: Heyde Syndrome.

BACKGROUND Heyde syndrome is characterized by anemia due to angiodysplasia, aortic valve stenosis, and acquired von Willebrand syndrome. However, the awareness regarding Heyde syndrome in clinical practice is low. We report the case of an older woman with severe refractory iron-deficiency anemia and severe aortic stenosis who was diagnosed with Heyde syndrome. CASE REPORT A 70-year-old woman who had been experiencing exertional dyspnea for 3 months prior to presentation was diagnosed with iron-deficiency anemia, with a hemoglobin level of 69 g/L. She did not experience any episodes of bleeding, such as nosebleeds, gum bleeding, abnormal bleeding, or melena. Upper and lower gastrointestinal endoscopy revealed no evidence of bleeding, and oral iron supplementation failed to improve the anemia. Auscultation of the chest identified an ejection systolic murmur. Chest and abdominal computed tomography showed no significant lesions or active bleeding. Capsule endoscopy of the small intestine revealed capillary dilation. Echocardiography detected severe aortic valve stenosis. Blood test results revealed a deficiency in large von Willebrand factor multimers. Therefore, Heyde syndrome was diagnosed. Aortic valve replacement surgery was performed, which resulted in an improvement in anemia and the associated symptoms. CONCLUSIONS In cases of unexplained and treatment-resistant iron-deficiency anemia, especially if careful auscultation detects aortic stenosis, Heyde syndrome should be considered a differential diagnosis. Furthermore, screening for angiodysplasia in the gastrointestinal tract and prompt diagnosis through measurement of large von Willebrand factor multimers are imperative when investigating potential sources of bleeding.

Intramuscular Venous Malformation Associated with Muscle Herniation of the Left Masseter Muscle in a 12-Year-Old Boy.

BACKGROUND Muscle hernias are an uncommon condition typically found in the extremities; masseter muscle hernia is even rarer. However, it is important for clinicians and radiologists to be aware of this possibility. Intramuscular venous malformation (IMVM) is also uncommon and mostly found in the head, neck, and extremities. The simultaneous presence of both conditions is extraordinary uncommon, and, to our knowledge, this has not been reported before in the masseter muscle. Due to their rarity, vague presentation, and inaccurate clinical diagnosis, radiological evaluation is needed to avoid inappropriate surgical planning. CASE REPORT A 12-year-old boy had a long-standing focal left cheek swelling exacerbated by teeth clenching. Lateral X-ray revealed a round calcification over the left mandibular region. Ultrasonography indicated a bulky left masseter muscle with focal heterogeneous structure and 2 rounded calcified foci. During teeth clenching, ultrasonography detected focal muscular herniation through the left masseter muscle facia that reduced with rest. The patient was diagnosed with left masseteric muscle hernia coexistent with IMVM. Surgical excision of the IMVM was performed, and the hernia defect was repaired. Histopathology confirmed the diagnosis, and the patient was discharged without postoperative complications on short-term follow-up. CONCLUSIONS Despite their rarity, masseter hernias and IMVMs should be considered in the differential diagnosis of any masseter lesion, especially in children. We reported a very rare coexistence of both pathologies. Comprehensive diagnosis can be achieved through a combination of clinical examination, X-ray, and ultrasound assessments.

Internal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection.

Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of her right hand with myoclonic jerking. Because previous imaging studies over 2 years were interpreted as occlusion of the left ICA secondary to carotid dissection, the treating physician had prescribed anticoagulant therapy. During transcranial Doppler (TCD) examination, the spectral waveform was unexpectedly normal, prompting a repeat review of all imaging due to the TCD results. Magnetic resonance angiography (MRA) revealed the same "flame-like" appearance of the ICA origin. Late-phase digital subtraction angiography showed a small caliber cervical ICA (occluded at the skull base). Computed tomography demonstrated absence of the carotid canal, confirming an absent intracranial portion of the ICA and establishing a correct diagnosis of left internal carotid hypoplasia. Vascular ultrasound and TCD examinations are noninvasive and inexpensive tools that can improve the interpretation and understanding of the clinical significance of other "static" radiographic tests (MRA, digital subtraction angiography ). An accurate diagnosis is essential to avoid risky, aggressive treatment, such as anticoagulation for an "absent" dissection.

Pulmonary Vein in a Pinch.

The pulmonary veins normally drain into the left atrium, with the superior pulmonary veins typically situated anterior and inferior to the right pulmonary arteries. However, anomalies can happen. We encountered an exceedingly rare pulmonary vascular anomaly for a patient presenting with atypical chest pain, where the right superior pulmonary vein aberrantly ran posterior to the right pulmonary artery (RPA) and became compressed between the RPA and the right main bronchus. Coronary computed tomography angiography identified this specific pulmonary vein anomaly but revealed unremarkable coronary arteries.

Vascular malformations in pediatric patients: 10-year experience of a vascular anomalies clinic.

BACKGROUND: Vascular malformations (VaMs) are caused by errors in vascular morphogenesis. Diagnosis and treatment can be complex. Few specialized centers care for these patients, and limited literature exists regarding their characteristics and clinical course. The vascular anomalies clinic (VAC) at the Instituto Nacional de Pediatría (National Institute for Pediatrics) is a multidisciplinary team and has been a reference center for patients with VaMs since 2012. We sought to describe the characteristics of patients cared for at the VAC, types of VaMs, treatments used, and clinical course. METHODS: This was a descriptive, observational, retrospective, and cross-sectional study conducted from 2012 to 2022. RESULTS: We included 435 patients with VaMs; the median age of presentation was 1 month. The most frequent signs and symptoms were increased volume (97.2%), superficial color change (65.5%), and pain (43.3%). The most common VaMs were lymphatic (36.7%) and venolymphatic (18.3%). Sclerotherapy was the most frequent treatment (73.4%), followed by medical treatment with sirolimus (18.5%); response to both was excellent/good in > 85% of cases. CONCLUSION: In this retrospective study of children with VaMs, we found that low-flow malformations were the most common, and sclerotherapy and sirolimus were the most frequently used treatments. The therapeutic response was excellent/good in most cases.

INTRODUCCIÓN: Las malformaciones vasculares (MaV) son secundarias a errores en la morfogénesis vascular. El diagnóstico y tratamiento puede ser complejo. Existen pocos centros especializados en su atención y escasa literatura respecto a características y evolución clínica. La Clínica de Anomalías Vasculares (CAV) del Instituto Nacional de Pediatría es un equipo multidisciplinario y centro de referencia para estos pacientes desde 2012. Buscamos describir las características de los pacientes atendidos en la CAV, tipo de MaV, tratamiento y evolución clínica. MÉTODOS: Estudio descriptivo, observacional, retrospectivo y transversal del periodo 2012 al 2022. RESULTADOS: Se incluyeron 435 pacientes con MaV, con edad mediana de presentación de 1 mes de vida. Los síntomas y signos más reportados fueron aumento de volumen (97.2%), cambio en coloración de la piel (65.5%) y dolor (43.3%). Las MaV más comunes fueron linfáticas (36.7%), siguiéndoles las venolinfáticas (18.3%). La escleroterapia fue el tratamiento más frecuente (73.4%) y el tratamiento médico más utilizado fue sirolimus (18.5%), ambos con excelente/buena respuesta en > 85% de los pacientes. CONCLUSIONES: En este estudio retrospectivo de niños con MaV encontramos que las más frecuentes son de bajo flujo y el tratamiento más usado escleroterapia y sirolimus. La respuesta terapéutica de la mayoría fue excelente/buena.

Surgical Management of Pulmonary Artery Sling in a Pediatric Patient.

BACKGROUND Pulmonary artery sling (PAS) is an anatomical vascular anomaly due to the origin of the left pulmonary artery from the right pulmonary artery, which runs posteriorly between the esophagus and trachea, resulting in compression of adjacent structures. Accurate evaluation for malformation of the pulmonary artery and severity of airway obstruction is essential to surgical strategy. This report presents the diagnosis and surgical management of pulmonary artery sling in a 12-year-old boy. CASE REPORT A 12-year-old boy had chest tightness and wheezing after exercise for 6 years. He was diagnosed with PSA based on findings from imaging tests, demonstrating the left pulmonary artery originated from the middle of the right pulmonary artery and the tracheal carina was located at the site of the T6 thoracic vertebra. The main bronchus and esophagus were compressed by the left pulmonary artery due to its ectopic origin. Then, after comprehensive preoperative assessment, the patient underwent surgical repair of PAS. CONCLUSIONS This report highlights the importance of pulmonary artery sling diagnosis, imaging, and surgical planning, and the role of a multidisciplinary team in preoperative and postoperative patient management. An individualized strategy based on the preoperative assessment, intraoperative coordination among cardiologists, surgeons, and perfusionists, and careful postoperative management are the core elements for successful PAS repair.

Peri-operative Anticoagulation Strategies, Bleeding and Thrombotic Complications in Pediatric Patients Undergoing Intervention for Congenital Portosystemic Shunts.

BACKGROUND: Congenital portosystemic shunts (CPSS) are rare congenital abnormalities causing abnormal blood flow between the portal vein and systemic circulation. This study reports on the peri-operative anticoagulation management of CPSS patients post closure, focusing on the incidence of thrombotic and bleeding complications. METHODS: This is a single-center retrospective analysis of CPSS patients who underwent surgery or endovascular intervention between 2005 and 2021. The protocol included unfractionated heparin (UFH) during and immediately after surgery, followed by either warfarin or low molecular weight heparin (LMWH) postoperatively. Outcomes assessed included postoperative thrombotic and bleeding complications. RESULTS: A total of 44 patients were included. Postoperatively, 89% received treatment-dose UFH, transitioning to warfarin or LMWH at discharge. Thrombotic complications occurred in 16% of patients, predominantly in the superior mesenteric vein. Surgical interventions and continuous infusion of tissue plasminogen activator (tPA) were used for clot resolution. Bleeding complications were observed in 64% of patients, primarily managed with transfusions and temporary UFH interruption. No deaths related to thrombotic, or bleeding events were reported. CONCLUSIONS: Our findings underscore the delicate balance required in anticoagulation management for CPSS patients, revealing an occurrence of both thrombotic and bleeding complications postoperatively. LEVELS OF EVIDENCE: Level II, retrospective study.

Isolated Vascular Malformation of the Clitoris: An Uncommon Cause of Clitoromegaly.

ABSTRACT: Clitoral enlargement (clitoromegaly) due to non-hormonal causes, particularly due to vascular malformation, is rare. Only eight such cases are reported in the literature. We report an additional case of isolated vascular malformation implicating the clitoris of a young girl child and its surgical management.

Tears of blood: an unusual case of haemolacria due to conjunctival vascular malformation successfully managed by embolisation.

A boy in his mid-teens presented with progressively increasing bleeding from the right eye and nostril intermittently over a period of 6 weeks. A complete ophthalmic examination revealed nothing significant. His otorhinological examination and haematological investigations were within normal limits. The patient came a month later with frank bleeding from the right eye. Ophthalmic examination revealed hyperaemia and maceration of the right lower palpebral conjunctiva. A histopathological examination of conjunctival scrapings from the site showed abnormal dilated blood vessels suggestive of a vascular malformation. Digital subtraction angiography confirmed the presence of a conjunctival micro arteriovenous malformation supplied by the external carotid and ophthalmic artery branches. He underwent successful transarterial Onyx embolisation resulting in complete resolution of the haemolacria.

Presentation, Radiologic Features, and Treatment Options of Congenital Tongue Tumors: A Comprehensive Review.

AIM: Congenital tumors of the tongue are rare in pediatric patients but encompass a diverse range of entities. Each tumor type exhibits distinct clinical behaviors, necessitating a precise approach to differentiating the tumor types and a tailored, tumor-specific treatment regimen. Advanced imaging techniques, such as diffusion-weighted imaging and perfusion studies, play a vital role in differentiating benign and malignant tongue tumors. This review summarizes current knowledge regarding the presentation, imaging features, and treatment of congenital tongue tumors. METHODS: A literature review was conducted by searching studies on congenital tongue tumors in databases such as PubMed, Embase, Web of Science, and Scopus. Relevant data, such as clinical features, radiologic characteristics, treatment modalities, and outcomes for different tumor types, were extracted from the selected articles. RESULTS: Our literature review reveals the various entities of congenital tongue tumors, which can be categorized in terms of hereditary pattern, phenotype, and rarity. Congenital tongue tumors include a range of vascular malformations, such as hemangiomas, lymphatic malformations, arteriovenous malformations, and venous malformations. Another entity is represented by cystic lesions, including dermoid cysts, epidermoid cysts, ranulas, and mucous retention cysts. Rare malignant neoplasms include teratomas and rhabdomyosarcomas. These tumor types vary in terms of swelling, respiratory distress, or impaired oral function, depending on size and location. The detection of these tumors can be carried out using imaging modalities, such as ultrasound, magnetic resonance imaging, and computed tomography, which are utilized to facilitate diagnosis and differentiation. At present, surgical excision remains the cornerstone of treatment, while other modalities may be adopted, depending on tumor type and extent. The prognosis of congenital tongue tumors can be affected by tumor's site, size, involvement of vital structures, and malignancy. CONCLUSIONS: Given their diversity and complexity, congenital tongue tumors, albeit uncommon, require specialized clinical treatments tailored to each tumor type's characteristics. Understanding the variable presentations and imaging features enables accurate diagnosis, while customized treatment strategies are key to optimizing outcomes and minimizing morbidity in pediatric tongue tumors. This review summarizes current knowledge aimed at enhancing differential diagnosis and management of these diverse entities.

Percutaneous Sclerotherapy of Venous Malformations.

Venous malformation (VM) stands as the most prevalent form of vascular malformation, characterized by its diverse morphology. These lesions can manifest in any part of the body, affecting different tissue planes and giving rise to symptoms such as pain, swelling, or physical dysfunction. In the realm of treatment, direct puncture VM sclerotherapy holds its place as the primary approach. This technique involves the administration of a sclerosing agent into the VM channels during contrast phlebography while simultaneously managing the outflow veins through different methods. The process of VM sclerotherapy induces endothelial damage, thrombosis, and fibrosis, resulting in symptom relief through lesion shrinkage. It is crucial to exercise caution techniques and sclerosing agents during VM sclerotherapy to minimize procedural complications, enhance clinical outcomes, and ultimately improve the patient's overall quality of life.

Fibroadipose Vascular Anomaly: Diagnosis and Treatment.

Fibro-Adipose Vascular Anomaly (FAVA) is a recently identified type of vascular malformation predominantly affecting adolescent females. Comprising abnormal adipose and vascular components, FAVA is frequently misdiagnosed as other vascular anomalies. It primarily manifests with pain, functional impairment, and musculoskeletal symptoms, particularly in the lower extremities. Accurate diagnosis requires a combination of clinical, radiologic, and histopathologic evaluation, with MRI and ultrasound being the primary imaging tools. Management of FAVA is multidisciplinary and tailored to individual patients. Interventional radiology procedures, such as percutaneous cryoablation, sclerotherapy, and embolization, are effective in long term control of symptoms. Cryoablation is particularly successful in alleviating pain and improving function. Surgical resection is reserved for specific cases with extensive lesions involving joints or when there is severe muscle or joint dysfunction. Additionally, sirolimus, an mTOR inhibitor, has shown promise in symptom relief, although further research is needed to confirm its long-term efficacy. Early diagnosis and treatment are essential for improving the quality of life in FAVA patients. Advances in imaging and treatment strategies have enhanced the ability to manage this complex and rare condition effectively.

Venous Anomalies in Overgrowth Syndromes.

Overgrowth syndromes, particularly within the PIK3CA-related overgrowth syndrome (PROS) spectrum, are commonly associated with venous anomalies. The anomalies include spongiform venous malformations and persistent embryonic veins, such as the lateral marginal vein (of Servelle). The anomalous veins pose a significant risk of thromboembolic disease and should be occluded, preferably earlier in life. A thorough understanding of the conditions, anatomy, and interdisciplinary treatment of these complex anomalies is essential for optimal management. This review explores the clinical and imaging diagnosis of overgrowth syndromes and techniques for assessing and treating associated venous anomalies, particularly the endovenous closure of anomalous veins.

Venous malformations in children: comparison between magnetic resonance imaging and histopathological findings.

BACKGROUND: Among low-flow vascular malformations, venous malformations are relatively frequent. The pathological patterns vary in severity and are generally characterized by dilated vessels and low-flow blood that over time can organize into phleboliths. Sometimes small capillary and/or lymphatic vessels may be associated, micro- and/or macro-shunts may form alone or in different combinations, and finally adipose tissue may be interposed between the malformed vessels. Magnetic resonance imaging (MRI) is a crucial examination for confirming venous malformations because it can accurately identify different features of the lesions. OBJECTIVE: The aim of our study was to compare MRI and histopathological findings of venous malformations in children to assess the possibilities and limitations of MRI. MATERIALS AND METHODS: In a retrospective study, two observers independently evaluated the contrast-enhanced MRI of 26 children with venous malformations. Several radiological parameters were considered and compared with histopathological findings. The agreement between the interobserver radiological evaluation and between histopathological and radiological diagnosis was verified using Cohen's kappa. RESULTS: MRI interobserver agreement was excellent for micro-shunts and good for the remaining findings. The radiological-pathological agreement was perfect for the presence/absence of phleboliths and of macro-shunts and almost perfect for the presence of intralesional adipose tissue, lymphatic component, and micro-shunts. CONCLUSION: MRI in venous malformations can detect the presence of phleboliths, adipose tissue, and lymphatic components with excellent accuracy and good to excellent interobserver agreement. Furthermore, MR angiography can detect micro-shunts in simple and combined venous malformations with substantial agreement with histopathological findings.

Extraskeletal Ewing Sarcoma Disguised as a Vascular Malformation.

Extraskeletal Ewing sarcoma (EES) is a rare entity, accounting for only 3% of lesions encountered in upper extremity. We present two paediatric patients, who were initially diagnosed with a vascular malformation based on clinical assessment and imaging. Final histopathology revealed Ewing sarcoma of soft tissue origin, confirmed by immunohistochemical analysis. Hand surgeons, who are routinely approached for a myriad of hand pathologies, should be wary and consider EES as a differential when treating such lesions. A multidisciplinary approach with an appropriate treatment algorithm can help in a speedy diagnosis, improving the long-term prognosis of the disease. Level of Evidence: Level V (Therapeutic).

[A case of retroperitoneal capillary malformation examined by contrast-enhanced ultrasonography with perfluorobutane (Sonazoid®)].

A man in his 60s with hyperamylasemia underwent contrast-enhanced computed tomography, which revealed masses in his pelvic cavity on the right side and in the left axilla. Hence, a detailed examination was performed. Upon performing Sonazoid® (perfluorobutane) contrast-enhanced ultrasound, it was discovered that the right-sided pelvic cavity mass exhibited centripetal contrast-enhancement right from the early stage. Subsequently, the contrast material disappeared from the center and was washed out in the postvascular phase. The mass was suspected to be caused by vascular malformations. The right-sided pelvic cavity mass was excised, and upon histopathological examination, it was detected to be composed of capillary malformations. Thus, it was found that Sonazoid® contrast-enhanced ultrasound examination could aid in diagnosing retroperitoneal masses.

Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.

BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events. CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg. CONCLUSION: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.