Surgery for Congenital Arterial, Venous, and Lymphatic Anomalies Clinical Presentation

Updated: Jul 08, 2016
  • Author: Jaime Shalkow, MD, FACS; Chief Editor: Mary C Mancini, MD, PhD, MMM  more...
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History and Physical Examination


Hemangiomas are usually noted in the first 2 weeks of life, though the exact timing depends on multiple factors, including the location of the lesion. Most start as a small cutaneous mark that resembles a bruise or red macular lesion before progressing to a more prominent lesion. Most (60-80%) develop on the craniofacial region, followed by the trunk and extremities. Whereas most cutaneous lesions are isolated, approximately 20% are multiple. Such multiple lesions should alert the clinician to the possibility of visceral organ involvement, as is often the case. [10, 23]

The presentation and course are quite variable, depending on the location and depth of the lesion. For example, deeper cutaneous lesions may lack a typical “strawberry” appearance but may instead appear darker with a bluish hue. During the proliferating phase, frequent assessment and documentation are necessary, in that lesion progression is unpredictable. A small lesion may rapidly blossom into a very large one or take a much less aggressive course. Usually, lesions plateau by age 1 year, marking the end of the proliferation phase.

During the involuting phase, the growth of the lesion slows and parallels the growth rate of the child. As the lesion matures and begins to regress, it usually lightens in color, often adopting a grayish hue, and becomes softer to palpation. By age 5-7 years, the final traces of color usually disappear, leaving either very little evidence of the lesion or an atrophic fibrofatty patch with telangiectatic vessels.

In approximately 50% of children, the site of the lesion matures to a normal texture and consistency. However, it is not currently possible to predict the course a particular lesion may take; no reliable clinical factors predict final cosmetic outcome. In general, facial hemangiomas may lead to long-term cosmetic defects, in that the lesion may destroy hair follicles and may produce mass effects on the facial skeleton, nose, and/or jaw. [6]  Hemangiomas complicated by chronic ulceration may also leave prominent scars.

Although most hemangiomas resolve without serious long-term complications and require only appropriate diagnosis and expectant management, approximately 20% of them become clinically significant and require more in-depth workup and treatment. [10]

Specifically, lesions that involve the head and neck deserve particular attention. Dermatomally distributed facial lesions, in particular, may indicate the presence of PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye anomalies). These warrant multiorgan evaluation and radiographic evaluation (eg, facial magnetic resonance imaging [MRI]). [24]

Similarly, the presence of numerous hemangiomas (so-called disseminated hemangiomas) may indicate the presence of visceral lesions involving the liver, lung, gastrointestinal (GI) tract, or brain. Screening with ultrasonography or MRI should be considered in these patients.

Other lesions that warrant early attention are those that involve the airway (usually heralded by a cutaneous cervical lesion), those that involve the eye and related structures, and those in the lumbosacral region. In neonates with these lesions, prompt evaluation by appropriate specialists (pediatric surgeon/ophthalmologist) should be sought, as therapeutic interventions (eg, tracheostomy) may be required. In the setting of lumbosacral disease, ultrasonography or MRI might be indicated to rule out underlying spinal cord defects.

One of the more problematic complications of cutaneous hemangiomas remains ulceration of the skin, affecting approximately 5% of infants. [25]  Ulceration most commonly arises in lesions that involve the extremities, lips, or perineum. Most ulcerative lesions can be treated with local wound care. Laser treatment and even resection may be considered if the ulceration is extensive.

Although most vascular tumors encountered in clinical practice are hemangiomas, other, rarer lesions (eg, pyogenic granuloma and kaposiform hemangioendothelioma) should also be considered when a vascular lesion in the neonate is evaluated. It is essential to identify these rare tumors at an early stage; treatment of the lesion and possible associated syndromes (eg, Kasabach-Merritt syndrome) may be required.

Venous malformations

Venous malformations, the most common form of vascular malformation, are composed of thin-walled, endothelial-lined, dilated, spongelike channels, with a notable absence of smooth muscle. They are usually blue-gray in color, are compressible, and grow slowly over time (usually growing as the child grows). Lesions may be small and varicose or large and extensive, involving the extremities, face, or trunk. Visceral involvement may occur. Cutaneous lesions may visibly expand with a Valsalva maneuver (a potential diagnostic aid during physical examination).

Phlebothrombosis is a common complication, resulting in pain, swelling, and stiffness of joints and muscles. The location and size of a specific lesion dictate the extent of clinical pathology. In general, the mass effect of a growing lesion leads to local symptoms. For example, craniofacial lesions may cause obstructive ocular and aerodigestive complications such as exophthalmia and sleep apnea, respectively. Lesions in the skin and soft tissue may cause extensive disfigurement. Deeper lesions that involve muscle or bone may eventually lead to a loss of musculoskeletal function and even pathologic fractures due to bony destruction.

Workup of venous malformations should include coagulation studies, in that extensive venous malformations have been associated with coagulopathies. MRI or venography may also be required to determine the extent of involvement of a venous malformation. Indications for treatment of these lesions include cosmetic disfigurement, pain, and functional impairment. The mainstay of therapy remains a combination of compression, sclerotherapy, and surgical resection.

Capillary malformations

Capillary malformations (also known as port-wine stains) can occur anywhere on the body, with a prevalence of 0.3% at birth. [26]  These lesions often manifest as discolorations of the neonatal skin and may darken over time, accompanied by a nodular expansion. Capillary malformations on the face may follow a dermatomal distribution, though more than half cross dermatomes or occur bilaterally. [27]  Lesions may involve the mucosal membranes and may cause significant distortion of the face with bony overgrowth and gingival hyperplasia.

The presence of capillary malformations should alert the physician to the possibility of anatomically associated central nervous system (CNS) defects, such as ectopic meninges, arteriovenous malformations (AVMs) of the spinal cord (Cobb syndrome), lipomeningocele, tethered cord, or spinal dysraphism. Lumbosacral lesions may also be accompanied by spinal cord abnormalities and neurogenic bladder dysfunction. [28, 29, 30]

Sturge-Weber syndrome must be considered in the presence of facial capillary malformations. This syndrome is characterized by facial capillary malformations and ipsilateral ocular and leptomeningeal vascular anomalies. [27]  Leptomeningeal vascular anomalies may be of venous, capillary, or mixed types and can cause various neurologic symptoms, such as seizures and hemiplegia. Choroidal anomalies are also often present, necessitating frequent ophthalmologic evaluation.

Lymphatic malformations

Lymphatic malformations are usually noted at birth or within the first few years of life and may manifest in numerous forms. These lesions may be isolated, may encompass a large anatomic area, and may involve multiple organs. Their classification is based on radiologic and histologic evaluation and resultant grouping into microcytic, macrocytic, and combined forms. Historically, these lesions have commonly been referred to as lymphangiomas and cystic hygromas; however, these terms are now regarded as dated and are no longer used by experts in the field. [6]

Lymphatic malformations may occur in any location but are typically found in the cervicofacial region, mediastinum, chest, axilla, perineum, buttock, and retroperineum. [31]  The lesions can range from small spongelike blemishes to large bulky masses that cause severe disfigurement. The overlying skin may appear normal, may exhibit bluish discoloration, or, in the case of dermal involvement, may be riddled with tiny dark-red vesicles caused by intravesicular bleeding.

A significant complication of lymphatic malformations remains intralesional hemorrhage, which can affect as many as 13% of cases. [32]  This is often heralded by rapid growth of the lesion, predisposing the area to infection. If bleeding occurs, antibiotic therapy should be started immediately. [6]  However, prophylactic treatment with antibiotics is not currently recommended.

Notably, faciocervical lymphatic malformations may result in significant ophthalmologic symptoms, dental problems, or airway compromise, the last of which may necessitate tracheostomy. [19, 33]

Management of lymphatic malformations centers on the prevention of bleeding, infection, and mass effect. The mainstays of treatment are sclerotherapy and surgical excision.

Arteriovenous malformations

AVMs are usually diagnosed at birth and may be mistaken for other types of malformations (eg, capillary malformations). As their name implies, AVMs consist of arteriovenous structures that allow shunting to occur. The lesions are defined by the presence of feeding and draining vessels. Consequently, the natural history of the lesion is one of progression. [34, 35, 36]

AVMs may first be evident as small discolored areas on the skin and progress at different rates depending on their flow (ie, fast vs slow). Fast-flow lesions typically evolve quickly, resulting in worsening erythema, rubor, bruits, and thrills. Trauma may exacerbate the lesions, and rapid growth may be observed during puberty. [6]  As the arteriovenous shunting worsens, local ischemic signs may manifest (ulceration, pain, bleeding). Extensive lesions may lead to high-output cardiac failure as the heart attempts to maintain perfusion in the presence of a large arteriovenous shunt.

Schobinger summarized the natural history of congenital AVMs as evolving through four distinct clinical stages, as follows [37] :

  • Stage 1 (quiescence) - This is characterized by a pink violaceous mark and the presence of an arteriovenous shunt detectable by echo Doppler ultrasonography
  • Stage 2 (expansion) - As in stage 1, but clinically pulsatile, with obvious presence of tortuous vessels
  • Stage 3 (destruction) - As in stage 2, along with damage to surrounding tissue (eg, dystrophic skin changes), ulceration, bleeding, and continuous pain
  • Stage 4 (decompensation) - Similar to stage 3, but associated with cardiac failure due to voluminous shunting

AVMs can occur almost anywhere in the body. An intracranial location is most common, followed by the head, neck, extremities (lower more often than upper), trunk, and viscera. Among AVMs that involve the extremities, those associated with fistulous shunts of the femoral vessels are most common. Many investigators choose to reserve the term arteriovenous fistula for the acquired traumatic variant involving a solitary fistula.

Patients with an AVM involving the brain may have a dramatic presentation, including neurologic symptoms. Pelvic AVMs are usually extensive and manifest as vaginal bleeding or symptoms related to compression of other pelvic organs. Congenital visceral fistulas can involve the lung, kidney, and alimentary tract. Alimentary tract AVMs are usually part of congenital telangiectatic syndromes and often present with GI bleeding. [38, 39]

Multimodality imaging with ultrasonography (Doppler), MRI, and angiography may be required to fully characterize a lesion. Because many AVMs are not localized and infiltrate deeply into several tissue planes, such imaging may be necessary to determine the best course of treatment. [40]  Treatment is individualized on a case-by-case basis, taking into consideration the location and extent of the lesion. A multidisciplinary approach is often required, with embolization, sclerotherapy, and surgical resection the mainstays of treatment.

Combined malformations

Lesions with multiple combinations of vascular elements are grouped into this category. So called capillary-lymphaticovenous malformations (seen in Klippel-Trenaunay-Weber syndrome) often involve the extremities, resulting in disfiguring hypertrophy of the involved limb. Functionality of the limb may also be affected, requiring surgical debulking, if appropriate.

Other combined malformations include those that manifest in individuals with Sturge-Weber syndrome. Limbs are typically affected and exhibit enlargement with skin changes. Treatment may include expectant management and embolization, if appropriate.