Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia and it is caused by mutations in the NOTCH3 gene. The neurologic manifestations of CADASIL syndrome have been well characterized; however, here we report one of the first de novo cases of CADASIL-associated coronary artery disease. A 45-year-old woman with a history of CADASIL and remote tobacco use presented with unstable angina. She was found to have diffuse and irregular narrowing of the left anterior descending artery and a drug eluting stent was deployed. Months later, she developed two subsequent episodes of unstable angina, requiring stent placement in the distal left anterior descending artery and the right coronary artery. Though the neurologic manifestations of CADASIL have been well described, these patients may also be predisposed to developing premature coronary artery disease. Patients with CADASIL and their physicians should be aware of this possible association because these patients may not be identified as high risk by traditional cardiovascular risk estimators. These patients may benefit from more aggressive interventions to reduce cardiac risk.
Highlights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia in adults and is caused by mutations in the NOTCH3 gene [1]
The gold standard for diagnosis of CADASIL syndrome has been a skin biopsy showing the presence of pathognomonic granular osmiophilic material in arterial walls; follow-up NOTCH3 mutation analysis is available to confirm the diagnosis [3]
Another study has shown that NOTCH3 mutation carriers are at increased risk of early onset myocardial infarction compared to related nonmutation carriers [5]
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable form of vascular dementia in adults and is caused by mutations in the NOTCH3 gene [1]. Patients with CADASIL usually present with various central nervous system- (CNS-) related symptoms: migraine with aura, transient ischemic attacks, mood disturbances, apathy, and dementia [2]. The gold standard for diagnosis of CADASIL syndrome has been a skin biopsy showing the presence of pathognomonic granular osmiophilic material in arterial walls; follow-up NOTCH3 mutation analysis is available to confirm the diagnosis [3]. These patients show characteristic white matter hyperintensities on magnetic resonance imaging. We report a case of CADASIL syndrome affecting the coronary vasculature
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