Raul Ettore Mattassi

• Director, Dept of Vasc Malform
• Head od department at Istituto Clinico Humanitas IRCCS

Congenital vascular malformations (CVM) are errors in the morphogenesis of the vascular system. There are venous, arteriovenous, and lymphatic defects; the most common anomaly is venous dysplasia (VM). There are defects of the main vessels, like aplasia, stenosis, or dilatation, or vascular dysplastic areas infiltrating tissues: the second group is...

Update of the previous Guidelines published in 2014. Extension of the study with first, second and third level recommendations

Aims: Vascular anomalies (VA) represent a heterogeneous and rare group of pathologies. Ethanol is considered the gold standard in endovascular embolization procedures, but its use exposes to the risk of major complications. Glubran-2 is a new glue agent, used mainly for catheter-based cerebral embolization. Our study reported preliminary experience...

Objectives: Arteriovenous malformations (AVM) are the most troublesome vascular malformations to deal with. They tend to behave like low-grade malignancies with infiltrative and disruptive growth. Crucially, the clinical course of an AVM that has been improperly managed is usually characterized by a recurrence that is much more aggressive than the...

Introduction: Vascular anomalies encompass an extremely heterogeneous group of congenital abnormalities of the vascular system. They include vascular tumors and malformations and have a prevalence of 4.5%. Vascular anomalies are frequently sporadic and associated with somatic mutations and/or a double-hit mechanism and are characterized by conside...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associate...

Vascular anomalies (VAs) have phenotypic variability within the same entity, overlapping clinical features between different conditions, allelic and locus heterogeneity and the same disorder can be inherited in different ways. Most VAs are sporadic (paradominant inheritance or de novo somatic or germline mutations), but hereditary forms (autosomal...

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, a...

Low-flow CVM are truncular or extratruncular type. Truncular superficial dilated dysplastic veins can be removed surgically if deep veins are normal. Venous aneurysm needs treatment because pulmonary embolism may happen. Tangential resection or vein transplant are the best treatment. Extratruncular forms, limited or infiltrating, may be sited in ev...

Aplasia and hypoplasia of deep veins as well as persistence of lateral marginal vein are truncular anomalies of development of the main venous system. Aplasia and hypoplasia may happen in superficial femoral, in popliteal, and in common femoral vein: inferior cava and also iliac veins may be involved. Those defects are mainly well tolerated. Surgic...

Subtyping of venous malformation (VM) into truncular and extra-truncular form derives from the embryological background in Hamburg classification of CVM (see Chap. 9). In the International Society for the Study of Vascular Anomalies (ISSVA) classification, it is classified as “vascular anomaly of major named vessels” which is referred to “truncular...

Vascular malformations occur in such an enormous variety of forms and types that they have been a symbol of confusion among various vascular disorders through decades. Unfortunately even until today in many places, the differentiation of hemangiomas and vascular malformations is not precisely known or is not accurately used in daily clinical practi...

Congenital vascular malformation (CVM) affecting lower extremity (LE) can cause bone and/or joint abnormality which can cause joint pain, early development of osteoarthritis, joint contracture, bone deformity, or limb length discrepancy (LLD) particularly in patients of growing age. Congenital vascular bone syndrome (CVBS) is defined as LLD due to...

Objective An accurate “molecular” diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all...

Purpose: The aim of this study was to evaluate complications in patients with head and neck venous malformations (VMs) treated with foam sclerotherapy using sodium tetradecyl sulfate (STS). Methods: The authors retrospectively evaluated the complications, pain. and degree of satisfaction in 69 consecutive patients affected by cervicofacial VM ma...

Congenital vascular malformations (CVM) are a heterogeneous group of vessels defects that include venous, lymphatic, arteriovenous and combined anomalies. CVM may be located in every part of the body with great variability. A precise diagnostic process is required to get complete information about the anomaly prior to decide treatment between diffe...

Vascular malformations (VM) are congenital vessel malformations vthat include one or more venous, lymphatic or arteriovenous defects. Klippel-Trenaunay syndrome occurs when there is a combination of venous and lymphatic malformations; however, the definition of KTS is still controversial. The 2013 international venous malformations consensus establ...

A specific decision about how to treat CVM should be taken for each case. Truncular defect are mainly treated by surgiccal techniques; sometimes also endovascular procedures may be indicated. Extratruncular forms can be treated with all available procedures (surgery, sclerosis, laser and radiofrequency). Infiltrating forms may be best approached by...

Venous and arteriovenous malformations are often located in the limbs. Venous defects include anomalies of the main vessels, like aplasia, hypoplasia, and dilatations (aneurysms), and areas of dysplastic veins infiltrating tissues. The persistence of some embryonic veins of the lower limbs, like the marginal and sciatic vein, is also possible. Arte...

Surgery was the only available technique to treat congenital vascular malformations (CVM) for a long time. However, even after progress by technique and equipments in the last century, results of surgical approach were often disappointing. The well-known publication of Szylagyi in 1976, which reported about negative results in a group of arterioven...

The pelvis can be divided into the pelvic cavity and gluteal area. Pelvic truncular vascular anomalies include aplasia, hypoplasia or aneurysm of iliac arteries, and aplasia or hypoplasia of cava iliac veins. Treatment is rarely required except for aneurysm of the sciatic artery. Pelvic cavity venous malformations may involve the organs, like the r...

Nuclear imaging technique may have a more important role in the evaluation of angiodysplastic malformations, where tissue structure subversion, unpredictability of the morphological picture, frequent multifocality, and, in a few cases, the remarkable extent of the corporeal districts cannot be unequivocally answered with the use of more traditional...

Congenital vascular malformations (CVM) are extremely variable in type, site, extension, and secondary effects. For these reasons, the diagnostic process may be difficult and often incomplete if there is not a guideline that helps to follow specific steps toward a complete comprehension of the single defect. To proceed with diagnostics, some specif...

Since the first edition of this book was published, much new knowledge has been gained on hemangiomas and vascular malformations. This revised and updated second edition, written by worldwide leaders in the field, fully reflects this progress. Important improvements in the treatment of hemangiomas are reviewed, including the use of beta-blockers an...

The diagnostic approach to vascular anomalies should include the distinction between vascular tumors (i.e. hemangiomas) and congential vascular malformations (CVMs). This step is based more on history and clinical examination rather than on instrumental evaluation. In children Duplex ultrasound and histology can be helpful to separate hypervasulari...

Hintergrund Die Marginalvene (MV) ist eine anormale Vene, die sich lateral an der unteren Extremität befindet. Bisher ist Sie noch wenig bekannt, sodass es bei fehlender Diagnose zu gefährlichen Eingriffen kommen kann. Embryologie Vor der Geburt erfolgt die venöse Durchblutung durch zwei embryonale Gefäße, die Marginalvene und die V. ischiadica. Be...

Background: Surgical removal of large cervicofacial venous malformations might be hampered by massive intraoperative bleeding. Moreover, these lesions often insinuate within normal surrounding tissue, making complete resection impossible without causing significant morbidity. Methods: Two patients affected by facial venous malformations nonrespo...

Venous malformations (VMs) are the most common vascular developmental anomalies (birth defects) . These defects are caused by developmental arrest of the venous system during various stages of embryogenesis. VMs remain a difficult diagnostic and therapeutic challenge due to the wide range of clinical presentations, unpredictable clinical course, er...

Arterio-venous malformations (AVMs) are congenital vascular malformations (CVMs) that result from birth defects involving the vessels of both arterial and venous origins, resulting in direct communications between the different size vessels or a meshwork of primitive reticular networks of dysplastic minute vessels which have failed to mature to bec...

A retrospective analysis of diagnostic procedures in a group of 102 patient affected by arteriovenous malformations were performed. Based on the results, the suggested steps for diagnosis are clinical examination, targeted duplex scan, MR T2 weighted and, sometimes, contrast CT 3D angio.

Definition, history, embriology, epidemiology, pathology, classification, diagnostic, treatment of vascular malformations.

Gefäßmalformationen sind Defekte in der Entwicklung des Gefäßsystems. Diese sind die Folge einer Unterbrechung oder Fehlentwicklung in der Angiogenese des Embryos. Sie sind durch angeborene, fehlgebildete Gefäße charakterisiert, welche in unterschiedlicher Komplexität und Vielfalt vorkommen können.

The majority of primary lymphedemas1,2 are due to a congenital, independent lesion of the lymphatic system resulting in dysfunction. Primary lymphedema due to a truncular lymphatic malformation (LM) has been thoroughly reviewed in Chap. 51.

To study the efficacy and safety of a new sclerosing gel of absolute ethanol in the percutaneous treatment of venous malformations (VM). In this prospective, non-randomized multicenter study patients with clinically and by magnetic resonance imaging diagnosed VM were treated. Efficacy and safety of the gel was evaluated. Therapeutic outcome was jud...

Primary intraosseous arteriovenous malformations are rare. Many minimally invasive procedures can be considered preoperative steps and/or definitive treatment. The case reported regards a young woman with a voluminous arteriovenous extratroncular infiltrating malformation of the humerus. She underwent several treatments, but none of them was comple...

Because of its extremely powerful sclerosing effect, in our experience, ethanol can be considered the most efficacious agent in the percutaneous treatment of peripheral venous malformations. To reduce the risk of ethanol reflux into the superficial veins or the central venous system, we developed a simple but very efficacious technique. After the t...

Vascular tumors are complex pathologies - clinical manifestations are heterogeneous, and multidisciplinary competences are needed to reach a correct diagnosis and plan optimal treatment. It is therefore essential to introduce a clear classification of hemangiomas and vascular malformations and this is admirably presented in this book. The authors g...

Visible abnormal vascular masses were the first congenital vascular malformations (CVM) reported in the literature. Probably the first report was that of Guido Guidi, personal physician of King Francis I of France in the XVI century. He described a young Florentine man with extremely dilated vessels of the scalp, which looked like enormous varices....

As congenital vascular malformations (CVM) are a complex mixture of different vessels, classification is difficult. In the past, different descriptions, syndromes with common names and complex classifications have been used to define these diseases. Only recently, two main classifications, more or less accepted, have been proposed: the Mulliken Cla...

Pure arterial malformations represent only about 8% of all vascular anomalies. They can be divided into aneurysms, hypoplasia (stenosis), aplasia and anomalies of site and course. Many are asymptomatic, but some require treatment because the disease can be severe or may even become life-threatening.

The introduction of non surgical techniques for the treatment of congenital vascular malformations (CVMs) has dramatically diminished the frequency of operations. However, in some cases, surgery is still the best option. In some locations that are difficult to approach, surgical expertise in the anatomical area allows a safer and more radical opera...

Precise knowledge of the haemodynamic and pathological characteristics of vascular malformations allows individualised treatments to be planned. The therapeutic approach should be flexible and should be addressed to maximise the benefits and to reduce the risks of the treatment. Haemodynamic treatments are beneficial in cases of truncular malformat...

When a curious tourist travels through an unknown country using a guidebook, at the end of his trip he may have a number of different feelings. If the land he visited was interesting and the guidebook brought him to the most remarkable places and clearly explained to him the meaning of what he was seeing and how to move through the country, he prob...

The principles of treatment that are discussed in the previous chapters are useful for all peripheral vascular malformations. However, in some areas of the body, anatomical peculiarities and specific functions may create approach difficulties. In case of surgical indication, a multidisciplinary approach may be necessary, while embolisation or scler...

The marginal vein, an abnormal superficial vein of the lateral lower limb, is a remnant of primitive embryonic vessels that have failed to regress. According to the extent, topography and sites of connection with the deep veins, five types have been distinguished by Weber. The marginal vein is valveless and may create venous stasis. Limb-length dis...

Congenital vascular bone syndrome (CVBS) is an abnormal enhancement or reduction of growth in long bones due to pathologic circulation during childhood. Several authors have described these clinical pictures with limb lengthening; well known are Klippel and Trenaunay and Parkes-Weber. Later, Servelle and Martorell also described cases of limb lengt...

Congenital vascular bone syndrome (CVBS) is an abnormal enhancement or reduction of growth in long bones due to pathologic circulation during childhood. Several authors have described these clinical pictures with limb lengthening; well known are Klippel and Trenaunay and Parkes-Weber. Later, Servelle and Martorell also described cases of limb lengt...

The marginal vein, an abnormal superficial vein of the lateral lower limb, is a remnant of primitive embryonic vessels that have failed to regress. According to the extent, topography and sites of connection with the deep veins, five types have been distinguished by Weber. The marginal vein is valveless and may create venous stasis. Limb–length dis...

Congenital vascular bone syndrome (CVBS) is an abnormal enhancement or reduction of growth in long bones due to pathologic circulation during childhood. Several authors have described these clinical pictures with limb lengthening; well known are Klippel and Trenaunay and Parkes-Weber. Later, Servelle and Martorell also described cases of limb lengt...

Venöse Gefäßmalformationen sind die am häufigsten vorkommende Gruppe der Gefäßmissbildungen. Sie werden nach der Hamburger Klassifikation in trunkuläre und extratrunkuläre Formen eingeteilt. Die moderne Chirurgie verfügt über verschiedene Behandlungsmöglichkeiten, abhängig von der Art des Defekts. Bei trunkulären Formen mit dysplastischer Erweiteru...

The clinical assessment of arteriovenous malformations (AVMs), including treatment response (surgical and/or embolosclerotherapy), has traditionally been done by arteriography, mainly by looking for residual lesions. However, arteriography is disadvantaged as it is an expensive invasive test with high morbidity and provides only limited anatomical...

Objectives: Duplex ultrasonography was assessed for its advanced role as a contemporary guide for the safer management of venous malformation (VM) at the lower extremities through a comparison study with matching magnetic resonance imaging (MRI) and/or ascending phlebography findings. Methods: A retrospective review of 50 patients with a VM in the...

International experts consensus on some topics in the management of vascular malformations

Treatment of venous malformations (VM) is based on the following concepts: conservative treatment, sclerotherapy, laser treatment and surgery. Conservative treatment with elastic stockings is recommended mainly in minor cases with little discomfort. Sclerotherapy may be performed with classic sclerosis, foam and absolute alcohol. Foam sclerosis, pe...

Various non- to less-invasive tests have been recently introduced in the management of congenital vascular malformations (CVM) and have become essential for the initial diagnostic work-up, largely replacing the traditional role of invasive tests. Whole body blood pool scintigraphy (WBBPS) was initially adopted as a supplementary test to reinforce o...

Management of arteriovenous malformations (AVMs) remains challenging because of their unpredictable behavior and high recurrence rate. A multidisciplinary approach based on a new classification scheme and improved diagnostic techniques may improve their management. The purpose of this study was to review our experience with combined embolotherapy,...

Approach to marginal vein is discussed

Historical background, incidence, etiology, localization, type of lesions, pathophysiology, clinical manifestations, diagnosis and treatment of peripheral and thoracic vascular trauma

Surgical treatmen of arterio-venous malformations. Treatrment strategy in 84 cases

Congenital vascular-bone syndrome is an alteration in limb growth caused by congenital vascular malformations in childhood. A precise study of the anatomic and hemodynamic nature of the underlying defect is necessary, not only for diagnosis, but also for therapy. The use of old eponyms for diagnosis, such as "Klippel-Trenaunay," "Parkes-Weber," and...

During the last 25 years 170 patients with ruptured aortic aneurysms were treated in our centre for vascular surgery with an overall mortality of 54%. We have subdivided these patients into three groups according to temporal factors: the 1st group includes 16 patients treated in the years 1966-1978; the 2nd group includes 93 patients treated from 1...

Approach of 143 cases of venous malformations of the lower limbs are discussed. Diagnosis is best performed by following the "four poins". Surgery is possible both in truncular and extraztruncular forms with good results

The great variability of anatomo-clinical forms justifies a conservative tendency in many physicians in the approach to vascular malformations. A judgement of inoperability is often given, especially in some severe defects, like aplasia or hypoplasia of deep principal veins, venous extratruncular infiltrating malformations and arteriovenous extratr...

Congenital vascular arteriovenous malformations can be treated by surgery in the majority of cases. Contraindications for surgical correction are only slight cases and very few of the severe cases in which amputation is the only possibility of treatment. After illustrating guidelines for surgical strategy, tactics and techniques of operative treatm...

A unified method of treatment of congennital vascular malformations were applied in 1809 cases of vascular malformations treated in 6 centres for vascular malformations. Surgical tactics were divided in reconstructive operations, operations to remove the vascular defect, operations to reduce the hemodynamic activity of the defect and other non hemo...

Description of a case of persistence of sciatic artery

87 patients operated upon for 125 thoracic sympathectomies with different surgical techniques (supraclavicular, axillar and posterior approach) were studied. Authors noticed clear differences in results according to the sex of the patient and basic disease. Some observations about advantages and disadvantages of the different surgical techniques ar...

SUMMARY Purpose: To analyze the approach process to vascular malformations (VM), considering diagnostic procedures, treatment strategy and techniques and to give suggestion of a guideline. Methods: Experience have demonstrate that clinical examination alone is not sufficient to get a complete diagnosis of the malformation. Diagnostics may follow as...