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Published on: May 23, 2016
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) with Aortic
Koji Hayashi1, Hina Hamada2, Mamiko Sato1,3
1Department of Rehabilitation Medicine, Fukui General Hospital, Fukui, JPN.
Insights
This case study highlights a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who experienced aortic dissection. The findings suggest a potential link between CADASIL and large vessel disease, warranting further investigation.
Area of Science:
- Neurology
- Cardiology
- Genetics
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic small vessel disease.
- Large vessel involvement in CADASIL is not well-established.
- This case involves a patient with pre-existing cardiovascular risk factors.
Observation:
- A 48-year-old man diagnosed with CADASIL presented with type A aortic dissection.
- The patient underwent aortic graft replacement and subsequently developed a cerebral infarction.
- Brain imaging revealed white matter hyperintensities characteristic of CADASIL.
Findings:
- Genetic testing confirmed a NOTCH3 gene mutation (C457T, p.R153C), confirming the CADASIL diagnosis.
- The co-occurrence of aortic dissection and CADASIL in this patient is noteworthy.
- Cerebral infarction was observed post-operatively, potentially related to surgical stress or underlying vasculopathy.
Implications:
- This case suggests a potential association between CADASIL and aortic dissection, expanding the spectrum of large vessel disease in CADASIL.
- Further research is needed to understand the mechanisms linking CADASIL to aortic pathology.
- Recognizing this association may improve diagnostic and management strategies for CADASIL patients with cardiovascular complications.
Abstract:
This report describes the case of a 48-year-old Japanese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who also presented with aortic dissection. The patient had a history of hypertension, diabetes mellitus, dyslipidemia, and mild renal failure but had not received any treatment. He developed back pain and was diagnosed with type A aortic dissection via contrast-enhanced chest computed tomography (CT). He was treated with total arch aortic graft replacement. On the seventh day post-surgery, a brain CT revealed a cerebral infarction in the left frontal cortex, which was considered a surgical complication. T2-weighted fluid-attenuated inversion recovery (FLAIR) brain magnetic resonance imaging (MRI) performed five months after onset revealed widespread confluent white matter hyperintensities, including involvement of the bilateral temporal tips. Genetic testing identified a C457T mutation (p.R153C) in exon 4 of the NOTCH3 gene. Based on these findings, the patient was diagnosed with CADASIL. CADASIL is a monogenic inherited cerebrovascular small vessel disease and the leading genetic cause of subcortical stroke in adults. However, large vessel involvement related to CADASIL is less recognized. In this report, we discuss the relationship between CADASIL and aortic dissection.
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