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Treatment for brain AVMs can be symptomatic, and patients should be followed by a neurologist for any seizures, headaches, or focal neurologic deficits. AVM-specific treatment may also involve endovascular embolization, neurosurgery or radiosurgery.
Embolization, that is, cutting off the blood supply to the AVM with coils, particles, acrylates, or polymers introduced by a radiographically guided catheter, may be used in addition to neurosurgery or radiosurgery, but is rarely successful in isolation except in smaller AVMs. Gamma knife may also be used.
The surgical treatment involves the resection of the extracranial venous package and ligation of the emissary communicating vein. In some cases of SP, surgical excision is performed for cosmetic reasons. The endovascular technique has been described by transvenous approach combined with direct puncture and the recently endovascular embolization with Onyx.
Sclerotherapy is a treatment for specific veins and vascular malformations in the affected area. It involves the injection of a chemical into the abnormal veins to cause thickening and obstruction of the targeted vessels. Such treatment may allow normal blood flow to resume. It is a non-surgical medical procedure and is not nearly as invasive as debulking. Ultrasound guided foam sclerotherapy is the state of the art new treatment which could potentially close many large vascular malformations.
Compression therapies are finding more use as of the last ten years. The greatest issue with KTS syndrome is that the blood flow and/or lymph flow may be impeded, and will pool in the affected area. This can cause pain, swelling, inflammations, and in some cases, even ulceration and infection. Among older children and adults, compression garments can be used to alleviate almost all of these, and when combined with elevation of the affected area and proper management, can result in a comfortable lifestyle for the patient without any surgery. Compression garments are also used lately after a debulking procedure to maintain the results of the procedure. For early treatment of infants and toddlers with KTS, custom compression garments are impractical because of the rate of growth. When children may benefit from compression therapies, wraps and lymphatic massage may be used. While compression garments or therapy are not appropriate for everyone, they are relatively cheap (compared to surgery), and have few side-effects. Possible side-effects include a slight risk that the fluids may simply be displaced to an undesirable location (e.g., the groin), or that the compression therapy itself further impedes circulation to the affected extremities.
Debulking has been the most common treatment for KTS for several decades and while improvements have been made, the procedure is still considered invasive and has several risks associated with it. More effective and less invasive treatment choices now exist for KTS patients and therefore debulking is generally only recommended as a last resort. Debulking operations can result in major deformities and also leave patients with permanent nerve damage.
Mayo Clinic has reported the largest experience in managing KTS with major surgery. In 39 years at Mayo clinic the surgery team evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery. The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90% success. All the procedures demonstrated high recurrence rate in the follow-up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches need to be developed in order to offer a better quality of life for these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.
As the causes of local gigantism are varied, treatment depends on the particular condition. Treatment may range from antibiotics and other medical therapy, to surgery in order to correct the anatomical anomaly.
In general, there is no treatment available for CMTC, although associated abnormalities can be treated. In the case of limb asymmetry, when no functional problems are noted, treatment is not warranted, except for an elevation device for the shorter leg.
Laser therapy has not been successful in the treatment of CMTC, possibly due to the presence of many large and deep capillaries and dilated veins. Pulsed-dye laser and long-pulsed-dye laser have not yet been evaluated in CMTC, but neither argon laser therapy nor YAG laser therapy has been helpful.
When ulcers develop secondary to the congenital disease, antibiotic treatment such as oxacillin and gentamicin administered for 10 days has been prescribed. In one study, the wound grew Escherichia coli while blood cultures were negative.
Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.
Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.
Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.
After the surgery, some patients require intubation and mechanical ventilation for several days to allow adequate tracheal toilet, but most patients can have the tubes removed soon after the surgery. The obstructive airway symptoms may be worse in the first postoperative weeks. Only a few patients have immediate relief of stridor, but many obtain immediate relief of problems with swallowing (dysphagia). After extubation, it might be necessary to maintain positive airway pressure by appropriate flows of a humidified oxygen/air mixture.
The procedure is performed in general anesthesia. It is useful to place pulse oximeter probes on "both hands" and "one foot" so that test occlusion of one arch or its branches will allow confirmation of the anatomy. In addition blood pressure cuffs should also be placed on one leg and both arms to confirm the absence of a pressure gradient when the intended point of division of the lesser arch is temporarily occluded with forceps.
Can occur due to autosomal dominant diseases, such as hereditary hemorrhagic telangiectasia.
There is no standard treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with surgical treatment of a shunt, which often grants a much better prognosis and greater quality of life.
The prognosis for children with hydranencephaly is generally quite poor. Death often occurs in the first year of life, but other children may live several years.
Medical text identifies that hydranencephalic children simply have only their brain stem function remaining, thus leaving formal treatment options as symptomatic and supportive. Severe hydrocephalus causing macrocephaly, a larger than average head circumference, can easily be managed by placement of a shunt and often displays a misdiagnosis of another lesser variation of cephalic condition due to the blanketing nature of hydrocephalus. Plagiocephaly, the asymmetrical distortion of the skull, is another typical associated condition that is easily managed through positioning and strengthening exercises to prevent torticollis, a constant spasm or extreme tightening of the neck muscles.
Oral propranolol appears to be the most effective treatment for reducing the size of capillary hemangiomas in children and is more effective than placebo, observation without intervention, or oral corticosteroids.
Sometimes CHD improves without treatment. Other defects are so small that they do not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the body in eliminating water, salts, and digoxin for strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to restore circulation back to normal and in some cases, multiple surgeries are needed.
Interventional cardiology now offers patients minimally invasive alternatives to surgery for some patients. The Melody Transcatheter Pulmonary Valve (TPV), approved in Europe in 2006 and in the U.S. in 2010 under a Humanitarian Device Exemption (HDE), is designed to treat congenital heart disease patients with a dysfunctional conduit in their right ventricular outflow tract (RVOT). The RVOT is the connection between the heart and lungs; once blood reaches the lungs, it is enriched with oxygen before being pumped to the rest of the body. Transcatheter pulmonary valve technology provides a less-invasive means to extend the life of a failed RVOT conduit and is designed to allow physicians to deliver a replacement pulmonary valve via a catheter through the patient’s blood vessels.
Most patients require lifelong specialized cardiac care, first with a pediatric cardiologist and later with an adult congenital cardiologist. There are more than 1.8 million adults living with congenital heart defects.
Simple surgical excision is curative. The recommended treatment is that the skin is peeled off the extra-auricular tissue and protruding cartilage remnants are trimmed. Normal appearance is achieved in majority of cases. The reconstruction successful in true cases of accessory auricle, as it also is in individuals with auricular appendages.
It is sometimes treated with surgery, which involves rerouting blood from the right atrium into the left atrium with a patch or use of the Warden procedure. However, interest is increasing in catheter-based interventional approaches, as well as medical therapy for less severe cases.
Congenital hemangioma can be distinguished from infantile hemangioma because it is fully developed at birth. It forms during prenatal life and has reached its maximal size at birth. Congenital hemangioma can even be diagnosed in utero by prenatal ultrasound. Unlike IH, CH is more common in the extremities, has an equal sex distribution, and is solitary, with an average diameter of 5 cm. It commonly presents in the head and neck and in the lower extremities.
Congenital hemangioma are divided into 2 subgroups: the rapidly involuting congenital hemangiomas (RICHs) and the non-involuting congenital hemangiomas(NICHs).
The rapidly involuting congenital hemangioma, RICH, presents at birth as a solitary raised tumor with a central depression, scar, or ulceration surrounded by a rim of pallor. It is noted for its involution, which typically begins several weeks after birth and is completed no later than 14 months of age. After regression RICH may cause a residual deformity, such as atrophic skin and subcutaneous tissue. It mainly affects the limbs (52%), but also the head and neck region (42%) and the trunk (6%).
The non-involuting congenital hemangioma, NICH, presents as a solitary, well-circumscribed reddish-pink to purple plaque with central telangiectasia and hypopigmented rim. In contrast to RICH, NICH does not involute and rarely ulcerates. It persists into late childhood and can even mimic a vascular malformation by growing commensurately with the child. Although NICH can resemble RICH in its external appearance, it can be differentiated from RICH by a greater elevation and coarse telangiectases. It mainly affects the head and neck region (43%), but also the limbs (38%) and the trunk (19%).
Surgical resection for congenital hemangiomas is rarely needed, because RICH undergoes postnatal regression and NICH is benign and often asymptomatic. Resection may be indicated to improve the appearance of the affected area, as long as the surgical scar is less noticeable than the lesion. Other indications are problematic ulcers with persistent bleeding or chronic infection.
Although most NICH lesions are non-problematic and do not cause significant deformity, the threshold for resection of NICH is lower, because it neither involutes, nor responds to pharmacotherapy. RICH tumors are observed until involution is completed. Involuted RICH may leave behind atrophic tissue, which can be reconstructed with autologous grafts. It is often best to postpone excision until regression is complete.
There are effective pharmacologic treatments, which include intralesional corticosteroid injection, systemic corticosteroid injection, interferon α-2a or α-2b and angiogenic inhibitors. The use of corticosteroids leads to accelerated regression in 30%, stabilization of growth in 40%, lightening of color and softening of the tumor. However, 30% shows minimal or no response. Another drug treatment is interferon α-2a or α-2b. It is often used for patients who did not respond to corticosteroids. Although the response rate is much slower, it has been successful for 80% of children treated. The most serious side effect of interferon is a spastic diplegia. Other therapeutic options are embolization and pulsed-dye laser, which improves residual telangiectasias in RICH and in NICH.
Sinus pericranii (SP) is a rare disorder characterized by a congenital (or occasionally, acquired) epicranial venous malformation of the scalp. Sinus pericranii is an abnormal communication between the intracranial and extracranial venous drainage pathways. Treatment of this condition has mainly been recommended for aesthetic reasons and prevention of hemorrhage.
a combination of various vascular malformations. They are 'complex' because they involve a combination of two different types of vessels.
- CVM: capillary venous malformation
- CLM: capillary lymphatic malformation
- LVM: lymphatic venous malformation
- CLVM: capillary lymphatic venous malformation. CLVM is associated with Klippel-Trenaunay syndrome
- AVM-LM: Arteriovenous malformation- lymphatic malformation
- CM-AVM: capillary malformation- arteriovenous malformation
There is no known specific treatment for this condition. Management is supportive.
If suspected antenatally, a consultation with a paediatric surgeon/ paediatric urologist maybe indicated to evaluate the risk and consider treatment options.
Treatment is by endoscopic valve ablation. Fetal surgery is a high risk procedure reserved for cases with severe oligohydramnios, to try to limit the associated lung underdevelopment, or pulmonary hypoplasia, that is seen at birth in these patients. The risks of fetal surgery are significant and include limb entrapment, abdominal injury, and fetal or maternal death. Specific procedures for "in utero" intervention include infusions of amniotic fluid, serial bladder aspiration, and creating a connection between the amniotic sac and the fetal bladder, or vesicoamniotic shunt.
There are three specific endoscopic treatments of posterior urethral valves:
- Vesicostomy followed by valve ablation - a stoma, or hole, is made in the urinary bladder, also known as "low diversion", after which the valve is ablated and the stoma is closed.
- Pyelostomy followed by valve ablation - stoma is made in the pelvis of the kidney as a slightly "high diversion", after which the valve is ablated and the stoma is closed
- Primary (transurethral) valve ablation - the valve is removed through the urethra without creation of a stoma
The standard treatment is primary (transurethral) ablation of the valves. Urinary diversion is used in selected cases, and its benefit is disputed.
Following surgery, the follow-up in patients with posterior urethral valve syndrome is long term, and often requires a multidisciplinary effort between paediatric surgeons/ paediatric urologists, pulmonologists, neonatologists, radiologists and the family of the patient. Care must be taken to promote proper bladder compliance and renal function, as well as to monitor and treat the significant lung underdevelopment that can accompany the disorder. Definitive treatment may also be indicated for the vesico-ureteral reflux.
In TAPVC without obstruction, surgical redirection can be performed within the first month of life. The operation is performed under general anesthesia. The four pulmonary veins are reconnected to the left atrium, and any associated heart defects such as atrial septal defect, ventricular septal defect, patent foramen ovale, and/or patent ductus arteriosus are surgically closed. With obstruction, surgery should be undertaken emergently. PGE1 should be given because a patent ductus arteriosus allows oxygenated blood to go from the circulation of the right heart to the systemic circulation.
A developmental venous anomaly (DVA, formerly known as venous angioma) is a congenital variant of the cerebral venous drainage. On imaging it is seen as a number of small deep parenchymal veins converging toward a larger collecting vein.
A device, known as the Amplatzer muscular VSD occluder, may be used to close certain VSDs. It was initially approved in 2009. It appears to work well and be safe. The cost is also lower than having open heart surgery. The device is placed through a small incision in the groin.
The Amplatzer septal occluder was shown to have full closure of the ventricular defect within the 24 hours of placement. It has a low risk of embolism after implantation. Some tricuspid valve regurgitation was shown after the procedure that could possibly be due from the right ventricular disc. There have been some reports that the Amplatzer septal occluder may cause life-threatening erosion of the tissue inside the heart. This occurs in one percent of people implanted with the device and requires immediate open-heart surgery. This erosion occurs due to improper sizing of the device resulting with it being too large for the defect, causing rubbing of the septal tissue and erosion.
Central nervous system cavernous hemangioma is a cavernous hemangioma that arises in the central nervous system (CNS). It can be considered to be a variant of hemangioma, and is characterized by grossly large dilated blood vessels and large vascular channels, less well circumscribed, and more involved with deep structures, with a single layer of endothelium and an absence of neuronal tissue within the lesions. These thinly walled vessels resemble sinusoidal cavities filled with stagnant blood. Blood vessels in patients with cerebral cavernous malformations (CCM) can range from a few millimeters to several centimeters in diameter. Most lesions occur in the brain, but any organ may be involved.
a) Surgical closure of a Perimembranous VSD is performed on cardiopulmonary bypass with ischemic arrest. Patients are usually cooled to 28 degrees. Percutaneous Device closure of these defects is rarely performed in the United States because of the reported incidence of both early and late onset complete heart block after device closure, presumably secondary to device trauma to the AV node.
b) Surgical exposure is achieved through the right atrium. The tricuspid valve septal leaflet is retracted or incised to expose the defect margins.
c) Several patch materials are available, including native pericardium, bovine pericardium, PTFE (Gore-Tex or Impra), or Dacron.
d) Suture techniques include horizontal pledgeted mattress sutures, and running polypropylene suture.
e) Critical attention is necessary to avoid injury to the conduction system located on the left ventricular side of the interventricular septum near the papillary muscle of the conus.
f) Care is taken to avoid injury to the aortic valve with sutures.
g) Once the repair is complete, the heart is extensively deaired by venting blood through the aortic cardioplegia site, and by infusing Carbon Dioxide into the operative field to displace air.
h) Intraoperative transesophageal echocardiography is used to confirm secure closure of the VSD, normal function of the aortic and tricuspid valves, good ventricular function, and the elimination of all air from the left side of the heart.
i) The sternum, fascia and skin are closed, with potential placement of a local anesthetic infusion catheter under the fascia, to enhance postoperative pain control.
j) Multiple muscular VSDs are a challenge to close, achieving a complete closure can be aided by the use of fluorescein dye.