Congenital Venous Malformations Research Articles

Inferior Vena Cava Agenesis associated with Deep Venous Thrombosis: Case Report

Inferior vena cava agenesis is a rare congenital venous malformation, with a prevalence ranging from 0.0005 to 1% of the world's population. The present study aims to describe a case of agenesis of the inferior vena cava associated with deep vein thrombosis (DVT) in a young patient and the difficulty in maintaining adequate anticoagulation. We report the case of a 22-year-old woman who had her first thrombotic event as a child, in the renal vein, and was anticoagulated. At age 20, she had a thrombotic event in the iliac vein and went back on anticoagulation, but with adequate control of coagulation, the patient decided when to stop and return to anticoagulation without medical advice. The diagnosis of agenesis was confirmed by tomography and phlebography. Currently, she was maintained on anticoagulation and warned about the risks of the disease and inadequate anticoagulation.

A proposal for a revision of the phlebographic classification of congenital venous malformations.

Venous malformation (VM) is the most frequent type of congenital vascular malformation. In terms of functional outcome local sclerotherapy remains the most important therapeutic tool. For planning and correct estimation and prevention of complications, an exact anatomical classification of the VM is crucial. Not only the drainage, as assessed in the established classification, but also the phlebographic aspect of the internal VM structure itself plays a decisive role. In order to integrate this aspect, we aim to validate a proposal for a revised phlebographic VM classification distinguishing non-lacunar (a) and lacunar (b) types. We retrospectively analyzed all patients with VM in whom a direct puncture phlebography was performed in our clinic between 2009 and 2018 to assess morphology and flow characteristics. Phlebographic assessment included: (I) differentiation of non-lacunar vs. lacunar type; (II) drainage assignment according to the existing classification; (III) adjusted classification combining both. Inter-reader agreement was measured in percentage as well as by the Cohen's kappa coefficient (κ). Overall 26 patients were classified as non-lacunar (a) and 41 patients as lacunar (b) VM. For this categorization, inter-reader agreement was 96% (κ=0.91). Classical Puig classification into types I, II, III and IV showed 87% inter-reader agreement (κ=0.78). For the adjusted classification adding the non-lacunar or lacunar characteristic to type I-IV an agreement of 82% (κ=0.77) was achieved. Phlebographic differentiation into non-lacunar and lacunar VM is feasible and reliable to distinguish phenotypic subgroups of patients with VM. We therefore propose to integrate this parameter of the internal VM structure into the existing classification.

Recurrent hematuria involving urinary system with Klippel-Trenaunay syndrome: A case report.

Klippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. Currently KTS is defined as a triad of skin wine pigmented spots, varicose veins and malformations of the lower extremities, and hypertrophy of bone and soft tissue, involving urinary system up to 6% to 30%. When the urinary system is involved, KTS is often presented as painless massive gross hematuria. This article describes a woman who was hospitalized with painless massive gross hematuria. Physical examination revealed significant hypertrophy of the right lower limb with varicose veins, port-wine stains in the skin, and right perineal hemangiomatous changes with swelling. The patient was admitted to hospital 4 times for repeated hematuria and infection. By physical examination, CT urography, ureteroscopy and cystoscopy, the patient was diagnosed to have Klippel-Trenaunay syndrome, involving the urinary system. The patient hematuria improved after multiple indwelling D-J tubes and anti-inflammatory treatment. The final symptoms of hematuria improved significantly, follow-up so far has not recurred. This case presents the possibility of painless gross hematuria with KTS. Most of patients can be improved by conservative treatment. Cystoscopic laser therapy is the preferred treatment for poor bleeding control. Cystectomy and nephrectomy should be considered when life-threatening.

Inferior Vena Cava Agenesia Associated with Deep Venous Thrombosis: Case Report

Inferior vena cava agenesis is a rare congenital venous malformation, with a prevalence ranging from 0.0005 to 1% of the world's population. The present study aims to describe a case of agenesis of the inferior vena cava associated with DVT in a young patient and the difficulty in maintaining adequate anticoagulation. We report the case of a 22-year-old woman who had her first thrombotic event as a child, in the renal vein, and was anticoagulated. At age 20, she had a thrombotic event in the iliac vein and went back on anticoagulation, but with adequate control of coagulation, the patient decided when to stop and return to anticoagulation without medical advice. The diagnosis of agenesis was confirmed by tomography and phlebography. Currently, she was maintained on anticoagulation and warned about the risks of the disease and inadequate anticoagulation.

Venous Thrombosis Due to Duplication of the Inferior Vena Cava with Decreased Protein C Activity: A Case Report

Introduction: Duplication of the inferior vena cava (IVC) is a congenital venous malformation that occurs in 0.2%-3% of the population as a result of persistent left and right supracardinal veins. The IVC duplication is prone to deep vein thrombosis due to endothelial dysfunction and associated venous stasis. This is a rare case of recurrent venous thrombosis due to IVC duplication and decreased protein C activity. Case: A 57-year-old male presented with swelling of the left lower limb that gradually developed over a one-week period preceding his visit. He reported a history of superior mesenteric vein thrombosis, approximately three years ago, for which he received anticoagulation therapy for three months. Thoracoabdominal contrast-enhanced computed tomography (CT) revealed thrombi in the locations of the bilateral main pulmonary arteries, IVC duplication, left common iliac vein, left IVC, and left renal vein. Blood work confirmed protein C activity of 21% (baseline 64%-146%), that could have contributed to the recurrent IVC thrombosis and formation of pulmonary artery thrombus. Subsequently, the patient was hospitalized and started on anticoagulation therapy. The swelling in the left lower extremity gradually improved, and the patient was instructed to continue anticoagulation therapy permanently. Conclusion: When investigating venous thrombosis of unknown or recurrent origin, it is necessary to include venous malformations and abnormal activity of blood coagulation factors in differential diagnosis.

Verrucous Haemangioma with Histoid Leprosy: A Case Report

Verrucous Haemangioma (VH) is a rare, congenital vascular malformation of cutaneous and subcutaneous tissue. It usually presents as macular lesion at birth which progresses with age, and may become bluish papules, nodules, and warty plaques. Linear presentation of this disease is even rarer. Here the present case report presents a case of a 30-year-old male patient with multiple raised erythematous hyperkeratotic papules and plaques over right forearm since birth which was arranged in a linear pattern.The patient also had asymptomatic papules on right thigh and lower back region, associated with sensory loss and peripheral nerve thickening. Dermoscopy of forearm showed reddish-blue lacunae, alveolar pattern, and whitish veils. Colour Doppler showed intradermal dilated venous channels with thrombosis which was suggestive of haemangioma. Histopathological examination confirmed the diagnosis of linear VH on forearm and slit skin Ziehl-Neelsen staining was suggestive of histoid leprosy. Linear VH is a rare congenital venous malformation, progresses proportionately with age. Dermoscopy can help in early diagnosis of vascular lesions. Complete surgical excision is the treatment of choice.

Prenatal Persistence of Bilateral Dorsal Edema of Feet Revealed Congenital Venous Malformation: A Case Report

Prenatal Persistence of Bilateral Dorsal Edema of Feet Revealed Congenital Venous Malformation: A Case Report

Imaging Findings in a Case of Bacteremia Caused by Non-Typhoidal Salmonella Associated with a Congenital Venous Malformation.

Non-typhoidal Salmonella infection is a typical food-poisoning disease, which rarely causes bacteremia, except in immunocompromised individuals. We report the case of a healthy adult in whom a varicose vein associated with a lower-leg venous malformation was considered the source of Salmonella bacteremia.

Coagulopathy and related complications following sclerotherapy of congenital venous malformations.

Congenital venous malformations (VMs) are low-flow vascular anomalies that can cause coagulation abnormalities. This phenomenon, referred to as localized intravascular coagulopathy (LIC), is characterized by elevated D-dimer, hypofibrinogenemia, and/or thrombocytopenia. Increased risk for LIC includes patients with an extensive VM, multifocal VM, and Klippel-Trenaunay and CLOVES syndromes. Peri-procedural anticoagulation has been given to prevent complications from LIC in patients undergoing surgical/interventional procedures; however, the rate of clinically relevant complications from sclerotherapy is largely unknown. The purpose of this study is to describe a single-institution's incidence of LIC in patients with VMs and coagulopathy-related complications following sclerotherapy. Retrospective chart review of patients, 0-21years of age, with VM who underwent sclerotherapy without peri-procedural anticoagulation and had coagulation profiles evaluated within 1month prior to sclerotherapy. diagnosis type (high vs. low risk for LIC), coagulation profile (including PT/PTT, D-dimer, fibrinogen, and platelet count), sclerosant used, and post-procedure outcomes. Coagulopathy-related complications included clinically relevant bleeding, deep vein thrombosis (DVT), and pulmonary embolism (PE). N=138 patients; 59.4% were female. The most common location of VM was the lower extremity (47.8%; 66/138). Of patients with high-risk VMs (29/138 [21%]), 11/29 (37.9%) had laboratory values consistent with LIC, whereas 5% (5/109) of low-risk VMs had LIC. In sum, 492 sclerotherapy procedures were performed with no complications of bleeding, DVT, or PE. Patients undergoing sclerotherapy for VM with abnormal coagulation profiles may not require peri-procedural low molecular weight heparin (LMWH). Further studies are needed to precisely define which patients would benefit from anticoagulation.

A rare cause of recurrent gastrointestinal bleed: Blue rubber bleb nevus syndrome

Congenital venous malformations (VMs) are rare cause of gastrointestinal (GI) bleed in children. Blue rubber bleb nevus syndrome characterized by VMs in GI tract and skin affect at early age in life. Diagnosis is based on typical skin lesion and history of recurrent GI bleed. In this article, we presented a similar case of young girl with typical skin lesion and recurrent GI bleed requiring multiple blood transfusions presenting our department. She was subjected to surgical treatment and endoscopy therapy due to failure of conservative therapy. This case report depicts importance of typical clinical features of rare diseases.

Case Report of a Left-sided Superior Vena Cava Causing Unique Positioning of Central Line.

IntroductionPersistent left-sided superior vena cava is a rare congenital venous malformation. While often clinically asymptomatic, these variations in normal anatomy may give rise to complications with central venous catheter placement.Case ReportWe present a case of a 71-year-old male who presented to the emergency department with sepsis of unknown etiology. A right-sided central venous catheter was placed, and due to a persistent left-sided superior vena cava the post-procedure chest radiograph showed a uniquely positioned catheter tip within the left atrium.ConclusionA persistent left-sided superior vena cava may lead to uniquely positioned catheter tip placement on post-procedural imaging. This case demonstrates the need to consider variants in normal venous anatomy, such as persistent left-sided superior vena cava, to aid with correct interpretation of post-procedure imaging findings.

Young adult with varicosities and recurrent lower gastrointestinal bleeding

A 30 years gentleman presented with anaemia since last ten years due to recurrent rectal bleeding. He has had multiple admissions with transfusions in the preceding 10 years without a clear clinical diagnosis. His physical examination revealed gross pallor, prominent veins on the lateral side of the left lower limb with minimal hypertrophy and a hemangiomatous patch over the left buttock. Colonoscopy revealed a few dilated tortuous submucosal vessels in the rectum and sigmoid colon. A MR angiogram showed absent left popliteal vein and angiomatous lesions in the rectum and sigmoid colon. He was diagnosed to have Klippel-Trenaunay syndrome with hemangiomata of the lower gastrointestinal tract causing bleeding. He underwent a low anterior resection with stapled anastomosis, which has effectively controlled his bleeding. Adults with gastrointestinal bleeding due to congenital venous malformations commonly have visible external stigmata, which are often pointers of rare syndromes.

An unusual presentation of acute pulmonary embolism secondary to upper-extremity deep-vein thrombosis

Acute pulmonary embolism (PE) secondary to congenital venous malformation of the upper limb is a rare clinical entity. Clinical manifestation may range from vague shoulder discomfort to features of superior vena cava or thoracic outlet syndrome. We report a case of a 43-year-old adult patient who presented with acute coronary syndrome and on evaluation was diagnosed with acute PE secondary to upper-extremity deep-vein thrombosis (DVT). Magnetic resonance venogram of the right upper limb revealed congenital venous malformation, with thrombus as the cause of DVT.

An unusual presentation of acute pulmonary embolism secondary to upper extremity deep vein thrombosis

Acute pulmonary embolism (PE) secondary to congenital venous malformation of the upper limb is a rare clinical entity. Clinical manifestation may range from vague shoulder discomfort to features of superior vena cava or thoracic outlet syndrome. We report a case of a 43-year-old adult patient who was referred as acute coronary syndrome and on evaluation was diagnosed as acute PE secondary to upper extremity deep vein thrombosis. Magnetic resonance venogram of the right upper limb revealed congenital venous malformation with thrombus as the cause for deep vein thrombosis.

Liver histopathology in patients with hepatic masses and the Abernethy malformation

Background/PurposeThe Abernethy malformation (AM) is a congenital venous malformation in which the splanchnic venous return bypasses the liver and drains directly into the systemic circulation. This deprives the liver of hepatotrophic growth factors and allows metabolic products of digestion to enter the systemic veins without the benefit of passing through the liver. The histologic features of liver biopsies in children with an AM were reviewed. MethodsA retrospective review of liver biopsies in patients with AM between 1997 and 2017 was performed. Patients were divided into two groups for comparison of histologic features: presence (M+) or absence (M−) of a coexistent liver mass on imaging. Biopsies were reviewed by a pediatric pathologist. Chi-square test was used for statistical analysis between groups. Significance was assigned to p values <0.05. ResultsEighteen liver biopsies were reviewed. Masses were present in only 6 patients who had a liver biopsy. Masses were observed with similar frequencies in either type of the Abernethy malformation (I or II). Nine of 12 M− patients and 3/6 M+ patients had the type I AM. Histologically, all patients were noted to have small or absent portal veins. Isolated capillaries were seen more frequently in patients with a known liver mass (p = 0.045), while crowding of portal tracts was more commonly seen in patients without a liver mass (p = 0.019). ConclusionLiver biopsies in patients with AM demonstrate abnormal vascular and parenchymal histologic features. Livers with coexistent masses were more commonly found to have features suggesting an increased dependence on arterial blood supply. Level of evidenceIII.

Nowoczesna tomografia komputerowa w diagnostyce wybranych wad wrodzonych żył płucnych

An excellent spatial and temporal resolution of computed tomography (CT) provides for precise evaluation of congenital cardiac malformation in selected group of patients. CT allows for quick, simultaneous assessment of all chest structures, such as pulmonary vessels, lung parenchyma and bones. Recent advances in CT hardware and software result in fast scanning of large anatomic ranges with a single lamp rotation without the need for patient's sedation and breath hold. The only limitation of CT is nowadays the exposure to ionizing radiation but with the new generation of scanners equipped with iterative reconstruction it is possible to reduce applied radiation dose while maintaining image quality. CT evaluation of pulmonary venous anomalies is well described, accurate for determining the site of anatomic obstruction in anomalous pulmonary venous return and has been shown to be highly specific when compared to operative findings. This article presents short review on current possibilities of CT diagnostic management of selected congenital pulmonary venous malformations.

The Significance of Doppler Ultrasound in the Causes of Varicose Veins

Varicose veins could be clinically diagnosed with visual inspection but the use of Doppler ultrasound (US) in varicose veins is to identify the cause of varicose veins. Need for an extensive systematic review is therefore felt to itemize different causes of varicose veins. Relevant literature was searched and systematic analysis was performed with the aim to show the significance of US in the diagnosis of various causes of varicose veins. Various causes can be diagnosed with color and spectral Doppler US which can be usual causes and unusual causes as well including neovascularization, chronic venous ulceration, obesity, incompetency of the perforating veins, deep vein thrombosis, saphenofemoral junction incompetence, recurrence of the varicose veins after surgical treatment, vulvoperineal varicosities, intraosceous perforating vein incompetence, round ligament varicosity, persistent sciatic vein incompetence, congenital venous malformation and Klippel– Trenaunay syndrome, portosystemic collateral–related varicose veins, and pelvic congestion syndrome. It is concluded that duplex ultrasonography plays an important role in the diagnosis of the various causes of varicose veins.

Percutaneous sclerotherapy for spongiform venous malformations - analysis of patient-evaluated outcome and satisfaction.

Congenital venous malformations are frequently treated with sclerotherapy. Primary treatment goal is to control the often size-related symptoms. Functional impairment and aesthetical aspects as well as satisfaction have rarely been evaluated. Medical records of patients who underwent sclerotherapy of spongiform venous malformations were reviewed and included in this retrospective study. The outcome of sclerotherapy as self-reported by patients was assessed in a 21 item questionnaire. Questionnaires were sent to 166 patients with a total of 327 procedures. Seventy-seven patients (48 %) with a total of 159 procedures (50 %) responded to the survey. Fifty-seven percent of patients were male. The age ranged from 1 to 38.1 years with a median age of 16.4 years. The lower extremities were the most common treated area. Limitations caused by the venous malformation improved in the majority of patients (e.g. pain improvement 87 %, improvement of swelling 83 %) but also worsening of symptoms occurred in a minority of cases. Seventy-seven per cent would undergo sclerotherapy again. Sclerotherapy for treatment of venous malformations results in significant reduction of symptoms. Multiple treatments are often needed, but patients are willing to undergo them.

Staged endovascular and surgical treatment of a hemorrhagic colorectal venous malformation

Abstract Congenital venous malformations of the intraperitoneum and pelvis are rare but significant causes of unremitting gastrointestinal bleeding and chronic anemia. Treatment options vary depending on the location of lesion and extent of involvement. Herein, we present a rare case of an extensive, contiguous colorectal venous malformation complicated by lifelong, refractory hematochezia and anemia.

Anesthetic Management of Emergency Cesarean Section in a Patient with Congenital Venous Malformation

ABSTRACTBlue rubber bleb nevus syndrome (BRBNS) is characterized by typical bluish, soft, and compressible lesions with rubber-like consistency present since birth. In this syndrome, venous malformation (VM) is always present since birth and is commonly found in the cheek, tongue, lip and jaw, and sometimes may be present in deep tissue, bone, or muscle. A vascular malformation is known to grow in size throughout the life of an individual with sudden enlargement in size during puberty and pregnancy due to hormonal changes. We report the successful management of a case of congenital VM of the lip and mandible posted for emergency cesarean section under spinal anesthesia.How to cite this articleNarkhede H, Oak SP, Singhal I, Apte N, Shah M. Anesthetic Management of Emergency Cesarean Section in a Patient with Congenital Venous Malformation. Res Inno in Anesth 2017;2(2):73-75.