Congenital vascular defects

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Congenital vascular defects are a group of disorders that affect the blood vessels and are present at birth. These defects can occur in any part of the vascular system, including the arteries, veins, and capillaries. They range from minor anomalies that may never cause symptoms to serious conditions that can lead to significant health issues.

Types of Congenital Vascular Defects[edit | edit source]

There are several types of congenital vascular defects, including but not limited to:

  • Arteriovenous malformations (AVMs): Abnormal connections between arteries and veins, bypassing the capillary system. AVMs can occur anywhere in the body but are most commonly found in the brain and spine.
  • Capillary malformations: Also known as port-wine stains, these are flat, pink, red, or purple lesions caused by an abnormal capillary network. They are usually present at birth.
  • Lymphatic malformations: Abnormal formations of the lymphatic system that can lead to fluid-filled cysts. These malformations can vary in size and location.
  • Venous malformations: Abnormalities in the veins that can cause them to be weak, leading to localized swelling and pain. These malformations are often present at birth but may not be noticeable until later in life.

Causes[edit | edit source]

The exact cause of congenital vascular defects is not fully understood. However, they are believed to result from a combination of genetic and environmental factors during fetal development. Some conditions, such as Klippel-Trenaunay Syndrome and Sturge-Weber syndrome, have been linked to specific genetic mutations.

Symptoms[edit | edit source]

Symptoms of congenital vascular defects vary widely depending on the type and location of the defect. Common symptoms may include:

  • Visible lesions on the skin
  • Swelling or pain in the affected area
  • Bleeding or bruising easily
  • Seizures (in cases of brain AVMs)
  • Complications such as heart failure or pulmonary hypertension in severe cases

Diagnosis[edit | edit source]

Diagnosis of congenital vascular defects typically involves a combination of physical examination, medical history, and imaging tests. These may include:

Treatment[edit | edit source]

Treatment for congenital vascular defects depends on the type, location, and severity of the defect. Options may include:

Prognosis[edit | edit source]

The prognosis for individuals with congenital vascular defects varies. Many people with minor defects live normal, healthy lives. However, more severe defects can pose significant health risks and may require ongoing medical management.


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Contributors: Prab R. Tumpati, MD