Mayo Clinic Department of Radiology, 200 First Street SW, Rochester, MN, 55905, USA.
Mayo Clinic Department of Neurosurgery, Rochester, MN, USA.
Neurosurg Rev. 2021 Jun;44(3):1429-1436. doi: 10.1007/s10143-020-01327-x. Epub 2020 Jun 7.
An embryological association between moyamoya disease (MMD) and cardiac manifestations has been proposed. Data up to this point remains anecdotal, and the prevalence of cardiac manifestations in a western MMD population is uncertain. The objective of this study was to determine the prevalence of cardiac manifestations including coronary artery disease (CAD) and congenital cardiac defects in a mostly Caucasian population of MMD patients and review prior reports of such cases. Medical records of MMD patients who presented to our institution between 1990 and 2019 were retrospectively reviewed for the presence of various congenital cardiac malformations and concomitant CAD. The prevalence of congenital cardiac defects and CAD was determined. A literature search for prior cases of MMD with concomitant cardiac manifestations was performed. A total of 181 MMD patients were included in our analysis, 139 (76.8%) of whom were Caucasian. Ten patients had cardiac manifestations (5.5%). There were six total MMD patients with congenital cardiac defects (3.3%). All patients with congenital defects were diagnosed in childhood. The prevalence of congenital defects in MMD was slightly higher than the general population as reported previously (0.8-1.2%). Four MMD patients had CAD (2.2%). The mean age of patients with CAD was 41.0 years (SD = 12.3, range = 33-59) in our series and 33.1 years (SD = 15.0) in a review of prior reports. These mean ages of CAD are in contrast to the 7th and 8th decades of lifein the general population as indicated by prior studies. Our findings support an association between MMD and cardiac manifestations. Further investigation is warranted in order to further characterize this potential relationship and shed light on a possible cardio-cephalic neural crest syndrome.
已提出烟雾病（MMD）与心脏表现之间存在胚胎学关联。 到目前为止，这些数据仍然是轶事证据，并且西方 MMD 人群中心脏表现的患病率尚不确定。 本研究的目的是确定在以白种人为主的 MMD 患者人群中心脏表现（包括冠状动脉疾病（CAD）和先天性心脏缺陷）的患病率，并回顾此类病例的先前报告。 回顾性分析了 1990 年至 2019 年期间在我院就诊的 MMD 患者的病历，以确定各种先天性心脏畸形和并存 CAD 的存在。 确定了先天性心脏病和 CAD 的患病率。 对先前伴有心脏表现的 MMD 病例进行了文献检索。 我们的分析共纳入了 181 例 MMD 患者，其中 139 例（76.8％）为白种人。 10 例患者有心脏表现（5.5％）。 共有 6 例 MMD 患者患有先天性心脏病（3.3％）。 所有患有先天性疾病的患者均在儿童时期被诊断出。 与先前报道的一般人群（0.8-1.2％）相比，MMD 中先天性缺陷的患病率略高。 4 例 MMD 患者患有 CAD（2.2％）。 在我们的系列中，CAD 患者的平均年龄为 41.0 岁（SD = 12.3，范围 33-59），而在先前报告的综述中，CAD 患者的平均年龄为 33.1 岁（SD = 15.0）。 与先前研究表明的一般人群中 7 至 8 十年代相比，这些 CAD 的平均年龄有所不同。 我们的发现支持 MMD 与心脏表现之间存在关联。 需要进一步研究以进一步描述这种潜在的关系，并阐明可能的心脑颅神经嵴综合征。
