Vascular malformations

Common Name(s)

Vascular malformations

Vascular malformations are a type of congenital lesion (a growth present at birth) made up of arteries, veins, capillaries and/or lymphatic vessels. About 3% of children are born with vascular malformations. These malformations are not tumors and are therefore not cancerous. Most of the lesions only cause cosmetic issues, but some can cause difficulties depending on where it forms. Unlike hemangiomas, vascular malformations are present at birth (though it may take a few weeks to even a few years to be noticeable) and grow throughout a person’s lifetime. There are several different types depending on the type of blood vessel involved. Two common types of vascular malformations are salmon patches and port wine stains.

Symptoms vary based on the location of the lesion and the affected type of blood or lymph vessel. Some growths may affect vision or breathing. The causes of most of the lesions are not well understood. Vascular malformations are believed to have a genetic cause and display autosomal dominant inheritance, meaning you only need to inherit one changed gene to cause the condition (genes come in pairs one from each parent). Most of the involved genes are not known at this time, and the change usually happens by chance (sporadic). However, affected individuals will still have a 50% chance of passing it to their children. Locations and sizes of lesions can vary greatly within a family.

In order to diagnose vascular malformations, your doctor will perform a physical exam. Other tests may include imaging tests, including MRIs, CT scans, and ultrasounds. Treatment options may include surgery, laser therapy or injection of medicine into the vessel to make it less visible; however, treatment may not always be necessary. Talk to your doctor(s) about the most current treatment options. Genetic counselors and support groups are also good sources of information and can help connect you with others affected by vascular malformations.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Vascular malformations" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Vascular malformations" returned 121 free, full-text research articles on human participants. First 3 results:

Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.
 

Author(s): Ludmila Pawlikowska, Jeffrey Nelson, Diana E Guo, Charles E McCulloch, Michael T Lawton, Helen Kim, Marie E Faughnan,

Journal: Mol Genet Genomic Med. 2018 05;6(3):350-356.

 

Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in TGFβ/BMP9 pathway genes and characterized by vascular malformations (VM) including arteriovenous malformations (AVM) in lung, liver, and brain, which lead to severe complications including intracranial hemorrhage ...

Last Updated: 31 Dec 1969

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Pulmonary function tests leading to the diagnosis of vascular malformations in school-aged children.
 

Author(s): Beata Kusak, Ewa Cichocka-Jarosz, Urszula Jedynak-Wąsowicz, Grzegorz Lis

Journal: Adv Respir Med. 2017 ;85(5):253-257.

 

Vascular rings are congenital defects of great vessels. They cause compression of the trachea or/and the esophagus and therefore result in symptoms like inspiratory stridor, cough, wheezing, recurrent respiratory tract infections or dysphagia. In some cases, the correct diagnosis ...

Last Updated: 31 Dec 1969

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Successful treatment with dabigatran for consumptive coagulopathy associated with extensive vascular malformations.
 

Author(s): Atsushi Yasumoto, Ryohei Ishiura, Mitsunaga Narushima, Yutaka Yatomi

Journal: Blood Coagul. Fibrinolysis. 2017 Dec;28(8):670-674.

 

: Vascular malformation is occasionally complicated by consumptive coagulopathy, known as localized intravascular coagulopathy (LIC), which is characterized by a reduced fibrinogen level, an elevated D-dimer level and a normal platelet count. We report the case of a 17-year-old Japanese ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Vascular malformations" returned 30 free, full-text review articles on human participants. First 3 results:

Vascular malformations: classification, diagnosis and treatment.
 

Author(s): Inês M Carqueja, Joel Sousa, Armando Mansilha

Journal: Int Angiol. 2018 Apr;37(2):127-142.

 

Vascular malformations are congenital lesions with complex clinical presentations and management. Their classification and treatment options have considerably changed throughout the years, with conflicting evidence in the literature. In this article, we aim to review the classification, ...

Last Updated: 31 Dec 1969

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The pathobiology of vascular malformations: insights from human and model organism genetics.
 

Author(s): Sarah E Wetzel-Strong, Matthew R Detter, Douglas A Marchuk

Journal: J. Pathol.. 2017 Jan;241(2):281-293.

 

Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider ...

Last Updated: 31 Dec 1969

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Vascular malformations: an update on imaging and management.
 

Author(s): Sergio Sierre, Darío Teplisky, José Lipsich

Journal: Arch Argent Pediatr. 2016 Apr;114(2):167-76.

 

Vascular malformations comprise a broad and heterogeneous range of lesions that often represent a diagnostic and therapeutic challenge for the pediatrician. For a long time, the use of an inaccurate nomenclature has led to confusion. Since management depends on the specific vascular ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of a Specific Scale of Life'Quality for Children With Low-flow Vascular Malformations
 

Status: Recruiting

Condition Summary: Vascular Malformations

 

Last Updated: 2 Mar 2018

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the Efficiency of Endoscopic Treatment for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation
 

Status: Recruiting

Condition Summary: Gastrointestinal Vascular Malformation

 

Last Updated: 26 Dec 2016

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the Efficiency of Thalidomide for Recurrent Small Intestinal Bleeding Due to Gastrointestinal Vascular Malformation
 

Status: Recruiting

Condition Summary: Gastrointestinal Vascular Malformation

 

Last Updated: 30 Jul 2016

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