DVA associated with a cavernous malformation
With the recent advent of higher resolution imaging techniques, the association between CCM and DVA has become a more common finding. A DVA is most often associated with the sporadic form of cavernous malformation. They can be found with a solitary cavernous malformation lesion or with a localized cluster of lesions.
Research indicates that, for those with a DVA, the DVA is likely the cause of sporadic cavernous malformation development (Snellings, 2022). During brain development, a localized genetic mutation in the PIK3CA gene of a vascular cell causes the development of the DVA. Later, a second mutation in the area of the DVA in any one of four genes – MAP3K3, CCM1, CCM2, or CCM3 –leads to the development of the cavernous malformation. DVAs are not always visible on MRI, even with 3T MRI. As imaging technology advances to 7T MRI, it is possible that abnormal veins will be discovered in association with most sporadic cavernous malformations.
dva and hemorrhage risk
Findings from the COVID registries at the University of Chicago and Alliance to Cure Cavernous Malformation indicate the presence of a DVA may make sporadic cavernous malformations more susceptible to hemorrhage during COVID infection (Shkoukani A, 2021). It is hypothesized that a COVID-related blood clot may cause the backup of blood into an associated cavernous malformation lesion. This may cause hemorrhage.
Related, researchers have suggested that clotting in a DVA from causes other than COVID may be one cause of cavernous malformation hemorrhage (Zuurbier, 2019). While additional research is needed, specifically in mouse models of the illness, it is possible that both too little and too much blood clotting can have negative consequences for cavernous malformations.
Other Considerations
In general, surgical resection of a DVA, even during cavernous malformation resection, is not recommended due to the risk of edema, hemorrhage, or infarct. A 2020 study (Chen et al) found that sporadic lesions with an associated DVA did not increase patient risk of hemorrhage or hemorrhage size during a bleed. The authors recommend that having a DVA should not be an exclusive indication for proceeding with surgical resection of CCM.
Genetic testing is generally not recommended if there is an associated DVA present since these are more associated with the sporadic form of the disease. This further highlights the importance of obtaining gradient echo or SWI imaging in order to determine whether a DVA is present or associated with multiple lesions.
Patient Story: Vern
In 2004, Vern, then a 28-year-old father of two, hit his head while practicing jujitsu. From the subsequent CT scan, Vern and his wife Tiffany were surprised to learn that Vern had a more serious and long-term condition. Doctors diagnosed him with multiple cavernous malformations surrounding a large developmental venous anomaly (DVA), a dilated malformed vein, in his brainstem. While a DVA by itself typically does not cause symptoms or complications, Vern’s DVA had set the stage for the development of more than one cavernous malformation.
It was not until two years later that Vern had his first hemorrhage. As a result, he closed his business as a mobile fleet service mechanic to focus on his recovery and his family. “I couldn’t drive,” Vern explains. “My reaction time was just not near what it needed to be to operate a vehicle safely.” Vern is driving again, but not on interstates or during times of heavy traffic. He also has been recovering from gait and vision deficits.
Vern has consulted numerous surgeons about removing the most problematic of his cavernous malformations (also known as cavernoma or cavernous angioma). The DVA complicates surgery. Vern’s wife Tiffany explains, “The cavernous malformation that keeps bleeding is located too close to his DVA to remove. The DVA looks almost like a hook, and the cavernous malformation is on the inside of that hook.” Disturbing a large DVA like Vern’s can cause a catastrophic stroke.
Tiffany continues, “Vern has learned that being busy and doing something productive each day makes a huge difference in his quality of life. Vern has always had a very active lifestyle, but since having his bleeds, he has learned how to do things safer and smarter. He follows what doctors have told him to do and not to do… well mostly. All in all, Vern’s doing well.”
Updated 4.16.22
References
- Snellings, DA et al. (2022) Developmental venous anomalies are a genetic primer for cerebral cavernous malformations. Nature Cardiovascular Research. doi.org/10.1038/s44161-022-00035-7.
- Shkoukani, A et al. COVID-19 in a Hemorrhagic Neurovascular Disease, Cerebral Cavernous Malformation. J. Stroke Cerebrovas Dis. DOI:https://doi.org/10.1016/j.jstrokecerebrovasdis.2021.106101
-
Chen B, Herten A, Saban D, et al. Hemorrhage from cerebral cavernous malformations: The role of associated developmental venous anomalies [published online ahead of print, 2020 Jun 8]. Neurology. 2020;10.1212
-
Awad IA, Polster SP. cavernous malformations: deconstructing a neurosurgical disease. J Neurosurg. 2019;131(1):1–13.
-
Kumar, S., Lanzino, G., Brinjikji, W., Hocquard, K. W., & Flemming, K. D. (2019). Infratentorial Developmental Venous Abnormalities and Inflammation Increase Odds of Sporadic Cavernous Malformation. Journal of stroke and cerebrovascular diseases: the official journal of National Stroke Association, 28(6), 1662–1667.
-
Zuurbier, Susanna M et al. Long-term antithrombotic therapy and risk of intracranial haemorrhage from cerebral cavernous malformations: a population-based cohort study, systematic review, and meta-analysis. The Lancet Neurology. 2019;18(10):935-941.
-
Akers A, et al. Synopsis of guidelines for the clinical management of cerebral cavernous malformations: consensus recommendations based on systematic literature review by the Alliance to Cure Cavernous Malformation Scientific Advisory Board Clinical Experts Panel. Neurosurgery. 2017;80(5):665–680.
