Rubin Courtney B, Hahn Virginia, Kobayashi Taisei, Litwack Andrew
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA ; Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA 19104, USA.
Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Case Rep Cardiol. 2015;2015:167513. doi: 10.1155/2015/167513. Epub 2015 Sep 7.
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.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是血管性痴呆最常见的遗传形式，由NOTCH3基因突变引起。CADASIL综合征的神经学表现已得到充分描述；然而，我们在此报告首例与CADASIL相关的冠状动脉疾病的新发病例。一名有CADASIL病史且有长期吸烟史的45岁女性因不稳定型心绞痛就诊。她被发现左前降支弥漫性不规则狭窄，并植入了药物洗脱支架。数月后，她又出现了两次不稳定型心绞痛发作，需要在左前降支远端和右冠状动脉植入支架。尽管CADASIL的神经学表现已有详尽描述，但这些患者也可能易患早发性冠状动脉疾病。CADASIL患者及其医生应意识到这种可能的关联，因为这些患者可能不会被传统的心血管风险评估工具认定为高危人群。这些患者可能会从更积极的干预措施中受益，以降低心脏风险。
