Top Things to Know: Management of Inherited CNS Small Vessel Diseases: The CADASIL Example
Published: August 21, 2023
Prepared by Anne Leonard MPH, RN, FAHA
- Lacunar infarcts and vascular dementia are phenotypic characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This is the most common inherited cerebral small vessel disease (CSVDs). CADASIL is caused by a mutation in the NOTCH3 gene expressed in endothelial smooth muscle cells.
- About 12% of all strokes are attributable to small artery occlusion, but even among those with younger-onset lacunar strokes, <2% have genetically confirmed CADASIL.
- The classic CADASIL phenotype includes migraines, subcortical strokes progressing to vascular dementia.
- Brain imaging is a key to the diagnosis of inherited cerebral small vessel disease including CADASIL and the paper discusses several diagnostic approaches to CADASIL and the other inherited CSVDs.
- This statement discusses several other inherited CVSDs, such as Fabry’s disease (x-linked disorder – alpha-galactosidase A), CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy – HTRA1 gene mutation), CARASAL (cathepsin-A–related arteriopathy with strokes and leukoencephalopathy), among others.
- Antithrombotic and thrombotic therapies are discussed for these CSVDs including migraine management for people with CADASIL as migraine is a major manifestation of CADASIL.
- Neuropsychiatric disorders are common in CADASIL and are discussed in this paper.
- While there is no definitive treatment for CADASIL, management of modifiable vascular risk factors (tobacco smoking and hypertension) in persons with CADASIL is discussed in the paper.
- CADASIL patients who are pregnant is addressed in the paper and the considerations for this patient group.
- Considerations for managing patients with CADASIL are included in the paper and will help inform health care professionals in the management of patients with CSVDs.
Citation
Meschia JF, Worrall BB, Elahi FM, Ross OA, Wang MM, Goldstein ED, Rost NS, Majersik JJ, Gutierrez J; on behalf of the American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Hypertension. Management of inherited CNS small vessel diseases: the CADASIL example: a scientific statement from the American Heart Association [published ahead of print August 21, 2023]. Stroke. doi: 10.1161/STR.0000000000000444