From the Guidelines
Arteriovenous malformations (AVMs) are associated with several genetic syndromes, most notably Hereditary Hemorrhagic Telangiectasia (HHT), Wyburn-Mason syndrome, and Sturge-Weber syndrome, as reported in the most recent study 1.
Associated Syndromes
The associated syndromes with AVMs are characterized by distinct clinical features and complications.
- Hereditary Hemorrhagic Telangiectasia (HHT) is characterized by multiple AVMs in various organs, particularly the lungs, liver, and brain, along with recurrent nosebleeds and mucocutaneous telangiectasias.
- Wyburn-Mason syndrome involves AVMs of the retina, brain, and facial structures, often unilaterally.
- Sturge-Weber syndrome is marked by facial port-wine stains and leptomeningeal angiomas, which can lead to seizures and developmental delays.
Diagnosis and Management
These syndromes are typically diagnosed based on clinical features and genetic testing, and management focuses on treating symptoms and preventing complications from AVMs in affected organs, as noted in 1. The management of AVMs involves a multidisciplinary approach, including microsurgery, endovascular techniques, and radiosurgery, with the goal of complete AVM obliteration, as discussed in 1 and 1.
Quality of Life
The quality of life for patients with AVMs and associated syndromes can be significantly impacted by the symptoms and complications of the disease, highlighting the importance of prompt diagnosis and effective management, as mentioned in 1. Overall, the management of AVMs and associated syndromes requires a comprehensive approach that takes into account the individual patient's needs and circumstances, with the goal of improving morbidity, mortality, and quality of life, as emphasized in 1.
From the Research
Associated Syndromes with Arteriovenous Malformation (AVM)
The following syndromes are associated with Arteriovenous Malformation (AVM):
- Seizures and epilepsy: Various types of seizures and epilepsy are associated with 20-45% of cerebral AVMs 2
- Headaches: AVMs can manifest as headaches 3, 4
- Focal neurological signs: AVMs can cause focal neurological signs 3, 4
- Spontaneous intracerebral or subarachnoid hemorrhages: AVMs can cause spontaneous intracerebral or subarachnoid hemorrhages 3, 4
- Skin ulceration: AVMs can lead to skin ulceration 5
- Cardiac failure: AVMs can lead to cardiac failure 5
- Cyst formation: Untreated AVMs can be associated with cyst formation, although this is extremely rare 3
Clinical Presentation
The clinical presentation of AVMs can vary, but common presentations include:
- Seizures: AVMs can present with seizures, including generalized tonic-clonic seizures 2, 3
- Neurological deficits: AVMs can cause progressive neurological deficits 4
- Headaches: AVMs can cause chronic headaches 3, 4
- Hemorrhage: AVMs can present with intracranial hemorrhage 4
Diagnostic Evaluation
The diagnostic evaluation of AVMs typically involves: