Congenital vascular malformation
While most infants are born healthy, a few are born with various health conditions, including congenital vascular malformations and abnormalities. Congenital vascular malformation (CVM) is the form of birthmark or growth that is present at birth. They occur in approximately 1 percent of all infants’ birth.
Since vascular malformations are rare, accurate diagnosis of the condition and treatment is also difficult. This is because most medical providers do not diagnose the disorders often to be more knowledgeable regarding their prognosis. But regardless, finding proper treatment is still essential to correct the problem and ensure that the child grows and lives healthily.
Understanding Congenital Vascular Malformations
Congenital vascular malformations are a general term that refers to vascular tumors, vascular malformations, and other vascular deficiencies. It includes the congenital vascular abnormalities of the blood vessels that may result in cosmetic or functional issues. Besides, they tend to vary from minor, flat birthmarks to complex, three-dimensional structures located deep in the body.
Some growths and birthmarks develop on the skin surface and are somewhat easy to address. On the other hand, others can affect any vessel and occur in any section of the body. However, most of them include extremities. This means that they signify deficiencies or development issues that arose during the growth of the embryo. The outcome can involve the veins, arteries, lymphatics, capillaries, or a combination of the vessels. This is based on the nature of the progression during the time they develop.
Types of Congenital Vascular Malformations
Various types of congenital vascular malformations exist. They are usually categorized based on the type of blood vessel that is predominantly impaired. Some abnormalities affect children during their first year, while others tend to get better throughout the childhood period.
These types of congenital vascular malformations include;
- Arteriovenous malformations
Arteriovenous malformations involve abnormal coordination of the veins and arteries associated with the high circulation of blood. They are normally considered the most severe forms of malformations that can develop in any part of the body. Furthermore, they cause bleeding, pain, and heart pressure. Luckily, they are the most uncommon kinds of malformation.
- Venous malformations
Venous malformations are the most prominent, and they usually manifest as dilated purple veins that are compressible on the skin. The malformation can sometimes develop blood clots and become painful and swollen. If they grow in the legs, they might also trigger discomfort, especially after long periods of walking or standing.
- Lymphatic malformations
Lymphatic malformations are also common among infants at birth. They include the ducts that transport lymph fluid from the lymph nodes and tissues back towards the heart. Since they consist of an embryological basis, these malformations develop in combination with venous malformations.
In addition, the congenital combined syndromes associated with vascular malformation include;
Klippel-Trenaunay Syndrome (KTS): This is a neurological condition that is usually diagnosed when two of these conditions are present. They include slow-flow venous or lymphatic malformations, port-wine stains, and overgrowth of bony or soft tissue. KTS venous malformations can be very severe, affecting bones, muscles, and joints, as well as the underlying fat and skin. As a result, there is a high risk of chronic recurring infections and clotting within the veins.
Parkes-Weber Syndrome: This condition is analogous to Klippel-Trenaunay Syndrome. However, it entails increased-flow arteriovenous malformations of the leg or arm.
Blue Rubber Bleb Nevus Syndrome: This can also be referred to as Bean Syndrome. It’s a condition that is characterized by the presence of numerous, discrete slow-flow venous malformations in the underlying tissue. It can also include on the skin, in the intestines, or other internal organs.
Hereditary Hemorrhagic Telangiectasias (HHT): This is also referred to as Osler-Webe-Rendu Syndrome. It’s an inheritable disease that is transferred from parents to offspring. HHT is characterized by small-end artery malformations. Frequent nosebleeds, as well as skin rashes, especially on the palms of the feet and hands, are among the symptoms. Therefore, it’s important to get adequate care and treatment in order to prevent the clots from spreading towards the brain.
CLOVES: This means congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal deformities. CLOVES is a disease associated with fatty tissue overgrowth in the body and affects mostly infants and young children. It typically occurs in the trunk, limbs and feet, the neck, and the head. Some children with the condition can develop a deep red or purplish rash that resembles a port-wine stain. Furthermore, patients can have spinal deformities, including scoliosis or high-flow arteriovenous malformations involving the spinal cord.
What Causes Congenital Vascular Malformations?
Congenital vascular malformations are usually present at birth and mostly become evident at various ages. Medical experts are just starting to comprehend how these malformations come to be. When combined with Hereditary Hemorrhagic Telangiectasia (HHT), the pulmonary arteriovenous malformation is genetically inheritable.
At the moment, there is also a lot of research being conducted on the potential genetics of various malformations. Some are only recognized as something that happens during the growth of the veins, arteries, or lymph vessels, with no actual cause.
Symptoms of Congenital Vascular Malformation
If CVMs are situated in an extremity, they can manifest as a birthmark, a conspicuous or palpable blood vessel mass. They can influence the formation of collateral blood vessels within the varicose veins forms. Congenital vascular malformations might also stimulate limb enlargement or lengthening by triggering the limb's bony growth area.
The localized masses can vary in size ranging from small to large. The vessels' surface may be susceptible to damage and bleeding or even disintegrate and ulcerate. Arteriovenous malformations can be associated with ischemic pain. Ischemic pain is a type of pain that occurs if circulation is limited. This causes the nerves and the tissues that serve them not to receive sufficient blood.
Diagnosing Congenital Vascular Malformation
The most conclusive way to determine blood vessel defects was to inject contrast dye into them in the previous years. The purpose of this was to make them noticeable on x-ray, a technique known as an angiogram.
But today, it’s rarely a necessity to employ angiograms as the initial procedure. This is because most congenital vascular malformations don’t require any treatment form. Others are deferred till the need for treatment becomes apparent. Eventually, they might be necessary, but only if an operation is needed. Even then, they are better acquired either before or during the period of treatment.
Luckily, substantial improvement has been established in the non-invasive types of vascular imaging. A color duplex scan, a form of ultrasound imaging, is commonly used to research localized superficial vascular malformations.
Large mass lesions are better analyzed using magnetic resonance imaging (MRI). This technique images in several planes or view angles. Furthermore, it helps identify the anatomic degree of the malformation and, most critically, if it involves adjacent tissues. For instance, bones, muscles, joints, and nerves may prevent or complicate the surgical procedure.
Congenital Vascular Malformation Treatment Options
Congenital vascular malformation treatment is designed to treat and address all forms of congenital issues. These CVMs are usually treated for certain indications. This includes chronic pain, swelling, ulceration, blood clots, and blockage of main blood vessels that cause gradual limb asymmetry through the overgrowth.
The treatment can also be for specific cosmetic indications or if the vascular mass is cumbersome and causes a poorly misshapen limb or interrupts the extremity function mechanically. The majority of children with the most severe CVMs tend to manifest early in their life. Hence, the timing of the operation can be scheduled in accordance with the growth and development of the child. If necessary, it is always preferable to postpone surgery on younger children.
Initially, the only option for treating these vascular abnormalities was removing them surgically. However, 10 to15 percent of congenital vascular malformations that are large enough to justify surgery are removed. Extracting even the slightest of these vascular malformations may result in severe blood loss and pose a surgical risk.
A surgical procedure can still be suitable for localized and open lesions. However, catheter-based techniques have been introduced in recent decades. Catheters are inserted into the lesions, particularly from a groin vessel. This helps block the malformed blood vessels or embolized using various injectable substances, particles, or instruments.
The catheter embolization procedures may be used to treat lesions without requiring surgery. Furthermore, they help shrink bigger CVMs, making them more surgically treatable. Laser therapy can also be useful for treating small, localized birthmarks or port wine stains. Children with an uncommon venous malformation of the limbs (Kleppel-Trenaunay Syndrome) often benefit from bandages and elastic garments used to compress the large veins. The surgical procedure or less invasive treatment of the swollen superficial veins may also be effective after a thorough examination.
Conclusion
Congenital vascular malformations are not common, with certain types found in about 1 percent or less at birth. If one is diagnosed with vascular malformation later in life, the chances are that it occurred before birth. Most types of CVMs do not cause any symptoms. This is until they are altered by life events, including adolescence, pregnancy, and certain surgeries, injuries, or trauma.
CloudHospital specializes in diagnosing, treating, and managing congenital vascular malformations in both children and adults. It works with various medical experts with significant knowledge and skills in addressing such conditions.