Congenital Vascular Anomalies: Classification and Terminology

Vascular anomalies are a complex group of developmental abnormalities due to inborn errors of vasculogenesis or angiogenesis that present significant challenges in diagnosis and management. Because of the rarity and diverse presentation of these anomalies, patients are often seen by multiple specialists before correct diagnosis can be reached and treatment instigated. Accurate and timely diagnosis is crucial, and a multidisciplinary team approach is essential for the appropriate evaluation and management.

The cornerstone to understanding the correct diagnostic and treatment algorithm is correct classification and nomenclature. The first classification of vascular anomalies was based on biologic and histopathologic differences described by Mulliken and Glowacki in 1982. The classification broadly separated vascular anomalies into two groups: hemangiomas, where there is abnormal endothelial cell proliferation, and vascular malformations, in which a developmental error has occurred. In 1992 Mulliken and Young founded the International Society for the Study of Vascular Anomalies (ISSVA) and the classification was adopted by the society. At the time there was also the Hamburg classification, a consensus classification of congenital vascular defects published from the seventh meeting of the International Workshop on Vascular Malformations and sixth forum of angiologists in Hamburg in 1988. This classification was based on the anatomic vessel involved and whether the abnormalities were truncal or extratruncular.

More recently it has been recognized that the classification of vascular anomalies is a wide spectrum and advances in genetics, clinical behavior, and histologic entities has significantly increased our understanding and led to a requirement for modification of the original ISSVA classification. This is mainly due to the deeper level of understanding of distinct entities and associated syndromes and the realization of a number of unclassified vascular anomalies under the previous classification. Consequently, a working group was formed by ISSVA and in 2014 at their scientific meeting a revised ISSVA classification of vascular anomalies was approved. This combined some of the aspects of the 1988 Hamburg vascular anomalies classification. ( Table 16.1 ).

TABLE 16.1

Overview of ISSVA 2014 Classification of Vascular Anomalies

Vascular Anomaly
Vascular Malformations
Vascular Tumors Simple Combined Of Major Named Vessel Associated with Other Anomalies
Benign Capillary (CM) Capillary-venous (CVM) Affect Klippel-Trenaunay syndrome (CM + VM ± LM + limb overgrowth)
Venous (LFVM) Capillary-lymphatic (CLM) Lymphatics
Locally aggressive Lymphatic (LFLM) Capillary-arteriovenous (CAVM) Veins Parkes Weber syndrome (CM + AVF + limb overgrowth)
Arteriovenous (AVM) Lymphatic-venous (LVM) Arteries
Malignant Arteriovenous fistula (AVF) Capillary-lymphatic-venous (CLVM) Servelle-Martorell syndrome (limb VM + bone undergrowth)
Capillary-lymphatic-arteriovenous (CLAVM) Anomalies
Capillary-venous-arteriovenous (CVAVM) Origin Limb CM + congenital nonprogressive limb hypertrophy
Capillary-lymphatic-venous-arteriovenous (CLVAVM) Course
Number Maffucci syndrome (VM ± spindle cell hemangioma + enchondroma)
Diameter Macrocephaly
Valves Microcephaly
Communication (AVF) CLOVES syndrome (LM + VM + CM ± AVM + lipomatous overgrowth)
Persistence (embryonal)
Proteus syndrome (CM = VM ± LM + asymmetrical somatic overgrowth)
Bannayan-Riley-Ruvalcaba syndrome (AVM + VM + macrocephaly + lipomatous overgrowth)

Vascular anomalies most commonly present in childhood in one of three ways: a cutaneous lesion, a soft tissue mass, or the result of localized systemic influences of the primary lesion and/or a recognized syndrome. These may be present in isolation or be combined; e.g., a soft tissue mass with a characteristic overlying cutaneous component. Although most vascular anomalies present in childhood, some vascular malformations can present at any age with a preference often for puberty and pregnancy.

Imaging is frequently not required because diagnosis of most vascular anomalies is clinical, especially if there are some characteristic stigmata. Imaging in these circumstances tends to be only for impending critical complications such as periorbital or perispinal anomalies or when the deeper extent cannot be assessed. This is paramount to be able to discuss the best treatment strategy and the likelihood and nature of complications to therapy.

The most useful imaging modalities are magnetic resonance imaging (MRI) and ultrasound (US), including duplex US. US is ideal for outpatient consultations because it is portable, lacks ionizing radiation, is dynamic, and has the ability to detect fluid and flow characteristics. It is also the mainstay of access to allow therapies to be given. MRI offers the best assessment method because it does not utilize ionizing radiation and it has superior tissue contrast resolution and sensitivity to fluid for the evaluation of the extent and tissues involved. For the most part MRI sequences center on identifying static fluid and therefore heavily T2-weighted sequences with and without fat saturation are required along with T1-weighted sequences to identify anatomy. If enhancement characteristics are required to differentiate subtypes of malformations or there is some concern regarding the diagnosis, then postcontrast sequences can be obtained. Postcontrast sequences can be either static or dynamic to allow the understanding of flow. Contrast-enhanced magnetic resonance angiography (MRA) can also be performed if both the arterial and venous anatomy is required. In adults, computed tomographic angiography (CTA) can be used specifically for the anatomy of arteriovenous malformations due to its superior spatial resolution when compared with MRA.

In this chapter, the new 2014 ISSVA classification system is reviewed and described with the typical clinical presentation and imaging findings of each group/subgroup of vascular anomalies. The underlying genetic causes of vascular anomalies are also included in the subsections because this knowledge increasingly plays a pivotal role in target therapies in the management of these conditions.

Vascular anomalies are divided into two main groups: vascular tumors and vascular malformations. Vascular tumors are characterized by clonal cellular proliferation and initial growth in excess of age, whereas vascular malformations are structural abnormalities characterized by errors in vessel morphogenesis present at birth that grow commensurate with age. However, they can grow rapidly at times of hormonal changes (e.g., puberty and pregnancy), and can be complicated by infection, bleeding, and thrombophlebitis. The morbidity and treatment for vascular tumors differ dramatically from vascular malformations, and also differ dramatically for each type of vascular tumor and each type of vascular malformation, which is the overriding impetus for clear, standardized classification in the first place.

Vascular Tumors

Vascular tumors are subdivided into three groups: benign, locally aggressive, and malignant ( Table 16.2 ) and include infantile hemangiomas (IHs); congenital hemangiomas, including noninvoluting hemangiomas (NICHs), rapidly involuting hemangiomas (RICHs) and partially involuting hemangiomas (PICHs); and kaposiform hemangioendotheliomas (KHEs). Age at presentation (prenatal, at birth, early childhood, adult), presence or absence of overlying telangiectatic vessels, a lighter peripheral ring, presence of fast flow, and temporal evolution of the mass (involution vs. no involution) are important clinical criteria to approach the diagnosis of vascular tumors.

TABLE 16.2

Classification of Vascular Tumors

Benign Locally Aggressive Malignant
Infantile hemangioma Kaposiform hemangioendothelioma Angiosarcoma
Congenital hemangioma Retiform hemangioendothelioma Epithelioid hemangioendothelioma
Rapidly involuting (RICH) Papillary intralymphatic angioendothelioma (Dabska tumor) Others
Noninvoluting (NICH)

Benign Vascular Tumors

Infantile Hemangiomas

Infantile hemangiomas (IHs) make up approximately 90% of all vascular tumors. They are the most common vascular tumors of infancy, with a higher incidence in white infants. The highest incidence is noted in preterm infants weighing less than 1000 g. Head and neck regions are involved most frequently (60% of cases), followed by the trunk (25% of cases) and extremities (15% of cases).

IHs have a characteristic life cycle where they are typically not present at birth but appear commonly within the first 6 weeks of life as a soft, noncompressible mass that grows rapidly in the first few months (proliferative phase) and gradually involutes over years (involutional phase) and remains as a variable amount of smaller fibrofatty tissue for the remainder of life. IHs typically manifest as a single superficial cherry-red “strawberry mark”; deeper IHs are firm, rubbery subcutaneous masses, sometimes with a bluish skin hue. Most IHs double in size in the first 2 months of life, and approximately 80% reach their maximum size by 6 months of age ( Fig. 16.1 ).

Spontaneous regression in early childhood (approximately 7 years of age) is typical, but up to 40% of IHs may have residual skin changes, especially if they involve the head and neck. When a single lesion has a typical clinical history in a territory with no concern, no imaging or intervention is required. However, there are several situations in which further evaluation and treatment may be required. An atypical history requires US evaluation, which typically demonstrates a heterogenous mass with high vascularity on duplex scanning with low resistive arterial waveforms that become increasingly resistant during involution. If five or more subcutaneous lesions are present, then US of the liver is required. MRI reveals a T2 bright, T1 isointense mass with homogenous avid contrast enhancement. Internal serpiginous flow voids within the IH noted in T2-weighted imaging represents the arterial inflow, an important diagnostic clue. Dynamic contrast-enhanced MRA demonstrates early arterial enhancement in a soft tissue mass with a draining vein. Typically, no perilesional edema is observed, which facilitates differentiation from other soft tissue malignancies. Fibrofatty infiltration can be observed during the involuting phase.

Complications of IH include hypothyroidism, heart failure, abdominal compartment syndrome, visual impairment (periorbital), ulceration, and bleeding.

There is an association with more widespread abnormalities. PHACES syndrome refers to a constellation of Posterior fossa brain malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, Eye abnormalities, and Sternal defects.

Patients with hemangiomas overlying the lumbosacral spine can have associated abnormalities, the most common of which is a tethered spinal cord. MRI should be performed to exclude this abnormality. Genitourinary anomalies are possible, although less common.

Airway hemangiomas should be investigated in patients who have cutaneous cervicofacial hemangiomas distributed in the chin, anterior neck, lower lip, and preauricular areas (a “beard” distribution).

Therapy is reserved for those infants in whom there are complications or impingement on vital structures; oral propranolol has largely replaced oral steroids as the therapy of choice, although topical timolol is frequently used for isolated cutaneous lesions. Surgery may be required in some situations. The immunohistochemical marker glucose transporter protein isoform 1 (GLUT1) has become a major tool in diagnosing infantile hemangioma, with endothelial cells staining strongly. Most other vascular lesions, including congenital hemangiomas and vascular tumors, do not stain positive for GLUT1 ( Fig. 16.2 ).

Congenital Hemangiomas

Congenital hemangiomas (CHs) can occur as soft tissue masses, visceral lesions, and intracranial extraaxial lesions. There are three distinct life cycles: RICH ( Fig. 16.3 ), NICH ( Figs. 16.1 and 16.4 ), and PICH. The proliferative phase is complete by birth, although acute enlargement can be secondary to intralesional hemorrhage. They often present as violaceous gray tumors with prominent overlying veins or telangiectases that extend beyond the periphery of the lesion; many have a lighter or bluish halo on the surrounding skin. In RICHs, 90% of involution has occurred at 3 months, with complete resolution by 14 months. NICHs may occasionally grow commensurate with infant growth. Clinically lesions may be associated with a mild consumptive coagulopathy. Imaging is generally not required in CH, but MRI typically demonstrates rim enhancement, which becomes confluent throughout the lesion in time. Histology demonstrates the endothelial cells lining the CH stain negative to GLUT1. Presently no medical therapy has been shown to confer benefit. Surgery is rarely required; however, RICHs can leave significant textural change, necessitating reconstructive surgery after involution.

Fig. 16.1

Vascular anomalies flowchart. AVM , Arteriovenous malformation; BRBN , blue rubber bleb naevus; CM , capillary malformation; CMVM , familial venous malformation cutaneomucosal; GVM , glomuvenous malformation; IH , infantile hemangioma; KHE , kaposiform hemangioendothelioma; KT , Klippel Trenaunnay syndrome; LE , lower extremity; LM , lymphatic malformation; MRI , magnetic resonance imaging; NICH , noninvoluting congenital hemangioma; RICH , rapidly involuting hemangioma; UE , upper extremity; US , ultrasound; VM , venous malformation.

Fig. 16.2

(A) A 10-week-old infant girl with multiple segmental facial red hemangiomas with ulceration and swelling with partial overlapping of left eye affecting vision. (B) After 9 months on propranolol. Note the degree of lesion involution. (C) Magnetic resonance imaging of 6-month-old girl with palpable soft mass in left lateral neck, an infantile hemangioma (IH). Axial T2-weighted image with fat saturation demonstrates well-defined hyperintense soft tissue mass in left side of the neck, with few internal serpiginous flow voids. (D) Same patient as in (C); postcontrast T1-weighted image with fat saturation demonstrates avid homogenous internal contrast enhancement of the solid vascular mass. (E) Same patient as in (C); time-resolved dynamic contrast-enhanced magnetic resonance angiography in arterial phase demonstrates that avid homogenous enhancement of IH starts in arterial phase (note that only arteries are enhanced, no veins visualized) from a feeding artery taking off from left external carotid artery. Serpiginous flow voids noted in (C) were demonstrated to represent feeding arteries and draining veins of the IH. Note draining vein into left subclavian/internal jugular junction (F).

Fig. 16.3

(A) Newborn with round purple mass on right thigh with typical telangiectasia of skin and peripheral pallor consistent with a congenital hemangioma. (B) Same patient at 5 months of age with resolution consistent with a rapidly involuting congenital hemangioma (RICH).

Fig. 16.4

(A) A 4-year-old boy had a raised round lesion on right shin since birth, without regression with coarse purple telangiectasia on overlying skin. (B) Axial T1-weighted image without fat saturation clearly demonstrates infiltration of skin typical of congenital hemangiomas. (C) Axial postcontrast T1-weighted image with fat saturation demonstrates avidly enhancing solid vascular mass with skin infiltration. This constellation of imaging findings together with patient’s age and absence of regression since presentation at birth confirms diagnosis of noninvoluting congenital hemangioma (NICH).

Tufted Angiomas

Tufted angiomas (TAs) are also known as progressive capillary hemangiomas or angioblastoma of Nakagawa and are cutaneous lesions. TA is associated with Kasabach-Merritt phenomenon, a profound and sustained coagulopathy in which platelets, fibrinogen, and red blood cells are trapped within the lesion. There is speculation that TAs and KHEs are a spectrum of the same entity, with KHE being more aggressive. Histologically TAs contain distinct “cannonball” clusters of packed capillaries and the endothelial cells stain positive for lymphatic marker PROX1.

Pyogenic Granuloma

Pyogenic granuloma (PG), also known as lobular capillary hemangioma, is typically identified in the face, nose, or neck regions as a focal, well-defined superficial lesion of <1 cm. These lesions are extremely vascular and have a tendency to bleed and ulcerate and are associated with a history of recent trauma or inflammation.

Locally Aggressive Vascular Tumors

Kaposiform Hemangioendothelioma

KHE is a rare, distinct vascular tumor. It may present at birth or within the first few months of life as an ill-defined, purpuric mass, often painful, with an encircling pale ring; however, presentation may be later in childhood. The destructive/infiltrative nature and rapid growth of this vascular tumor facilitates differentiation from IH. Kasabach-Merritt phenomenon, a profound and sustained coagulopathy that can be life threatening, can be seen in up to 70% of patients. KHE has a high mortality rate (30%) related to coagulopathy or complications from local tumor infiltration.

KHE can occur anywhere but has a preponderance for extremities and the retroperitoneum. The lesions are firm and indurated and have a purplish coloration in which regional nodal spread has been described without true metastases ( Figs. 16.1 and 16.5 ). KHE appears as a solid mass with ill-defined borders and variable echogenicity on US imaging. MRI demonstrates an infiltrative pattern, with crossing of multiple soft tissue planes and involvement of overlying skin and subcutaneous fat often associated with surrounding edema. Diffuse early enhancement is typical. These more aggressive imaging features distinguish KHE from IH, as do the atypical clinical features.

Fig. 16.5

(A) An 11-month-old girl was born with an ill-defined purple, firm, indurated lesion overlying left knee region. Vascular anomaly was notable for being extremely painful and limiting movement of left lower extremity. (B) Lateral view of arteriogram of left knee, demonstrating enlarged feeders off lower superficial femoral and popliteal arteries filling the hypervascular mass. (C) Axial postcontrast T1-weighted image with fat saturation demonstrates infiltration of skin, subcutaneous fat, muscle groups, and cortex of bone by this enhancing infiltrative vascular anomaly. Infiltrative and aggressive nature of this painful solid mass in a young child confirms diagnosis of kaposiform hemangioendothelioma.

Histologically KHE consists of coalescing lobules of spindle cells that stain positive for PROX1 (lymphatic marker), CD34 (a stem cell marker), and CD31 (a vascular endothelial marker).

Malignant Vascular Tumors


Angiosarcomas represent 0.5% of all pediatric sarcomas. They can occur anywhere, including viscera—many hepatic cases have been reported. A proportion present with rupture and hemoperitoneum, and 60% have metastases at presentation. Prognosis is poor with a 25% 5-year survival rate. At MRI lesions often contain hemorrhagic products and fluid-fluid levels. At histology angiosarcomas have atypical endothelial cells that stain positive for CD34 and CD31.

Epithelioid Hemangioendothelioma

Epithelioid hemangioendothelioma is an uncommon malignancy that can occur anywhere but is often seen in the liver. The clinical course is more indolent than angiosarcoma, with 5-year survival rates of 73%. At histology the lesions have atypical epithelioid tumor cells with focal intracytoplasmic vacuoles containing red blood cells that stain positive for CD34 and CD31.

Vascular Malformations

Vascular malformations are a complex heterogenous group of developmental abnormalities of vasculogenesis or angiogenesis that present significant challenges in diagnosis and management. The diverse nature of the clinical presentation and the relative rarity of these lesions means that patients have often seen multiple specialists before the correct diagnosis has been made. The lesions are present at birth, although may not present clinically until adolescence or adulthood. They affect males and females equally and persist throughout life. The abnormalities tend to grow slowly, proportional to the patient, and do not demonstrate spontaneous regression. They can occasionally enlarge significantly related to hormonal changes (typically puberty and pregnancy), trauma (including surgery), infection, and thrombophlebitis. The 2014 ISSVA classification now subdivides vascular malformations into simple, combined, of major named vessel, and associated with other abnormalities (syndromes). This chapter focuses on the understanding and clinical features of the simple vascular malformations.

Simple Vascular Malformations

In broad terms a simple way to understand vascular malformations is to subdivide into flow characteristics of low flow and high flow ( Table 16.3 ). A detailed history and examination differentiate vascular malformations into these two groups and from other sinister pathologies. Clinical features are typically related to the focal mass, and patients predominantly present with pain and swelling, which is commonly intermittent. Aesthetic issues are also a common presentation. Clinical examination can separate into high flow (warm, thrill, and bruit) and low flow, which can be subdivided into capillary, venous, and lymphatic ( Table 16.4 ).

Jul 23, 2020 | Posted by in INTERVENTIONAL RADIOLOGY | Comments Off on Congenital Vascular Anomalies: Classification and Terminology
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