Department of Internal Medicine, Chungbuk National University Hospital, Cheongju, South Korea.
Division of Cardiology, Department of Internal Medicine, Chungbuk National University Hospital, Cheongju, South Korea.
Medicine (Baltimore). 2023 Dec 15;102(50):e36627. doi: 10.1097/MD.0000000000036627.
The ring finger protein 213 (RNF213) p.R4810K variant has been identified as being associated with Moyamoya disease (MMD), a condition that is more prevalent in East Asians. This association extends beyond cerebral vessels and has been implicated in coronary artery disease.
A 36-year-old female was admitted to the emergency room with chest pain. Although the patient had no known underlying conditions or risk factors for atherosclerosis, she was diagnosed with unstable angina and underwent percutaneous coronary intervention. Given her older sister's ongoing treatment for MMD, it was suspected that the patient's coronary artery disease might be linked to the MMD-associated gene mutation.
Coronary angiography revealed 80% narrowing of the proximal left anterior descending artery. Based on clinical symptoms and coronary angiography, we diagnosed it as unstable angina.
Due to the family history of MMD and detection of the RNF213 p.R4810K heterozygous variant in the patient's older sister, genetic counseling was recommended. Next-generation sequencing for vascular diseases was performed.
Genetic testing confirmed the presence of an RNF213 p.R4810K heterozygous variant in the patient, mirroring that in her sister. An RNF213 p.C4397R heterozygous variant was identified concomitantly, although it was categorized as a variant of uncertain significance. Coronary artery disease has been attributed to the RNF213 p.R4810K variant.
Although MMD is rare in Western populations, it is more common in East Asian populations. Traditionally, MMD diagnoses have focused solely on the cerebral vessels without guidelines for the assessment of other vascular involvements. This familial case underscores the fact that a single genetic mutation can manifest in diverse ways in different diseases. Hence, the need and regularity of systemic vessel screening should be thoughtfully considered in such a context.
环指蛋白 213（RNF213）p.R4810K 变体已被确定与烟雾病（MMD）相关，该病在东亚人群中更为常见。这种关联不仅限于脑血管，还与冠状动脉疾病有关。
一位 36 岁女性因胸痛被紧急送往急诊室。尽管该患者没有已知的动脉粥样硬化潜在疾病或危险因素，但她被诊断为不稳定型心绞痛，并接受了经皮冠状动脉介入治疗。由于她的姐姐正在接受 MMD 的治疗，因此怀疑患者的冠状动脉疾病可能与 MMD 相关基因突变有关。
冠状动脉造影显示左前降支近段狭窄 80%。根据临床症状和冠状动脉造影，我们诊断为不稳定型心绞痛。
由于家族中有 MMD 病史，且在患者的姐姐中检测到 RNF213 p.R4810K 杂合变体，因此建议进行遗传咨询。随后进行了血管疾病的下一代测序。
基因检测证实该患者携带 RNF213 p.R4810K 杂合变体，与她姐姐的情况相同。同时发现了 RNF213 p.C4397R 杂合变体，但被归类为意义不明的变体。冠状动脉疾病归因于 RNF213 p.R4810K 变体。
尽管 MMD 在西方人群中较为罕见，但在东亚人群中更为常见。传统上，MMD 的诊断仅集中在脑血管上，而没有评估其他血管受累的指南。这个家族病例强调了一个事实，即单一的基因突变在不同的疾病中可能表现出不同的方式。因此，在这种情况下，需要认真考虑系统血管筛查的必要性和规律性。
