Haidar Husaam, Alohali Ahmed F, Albaradai Abdulaziz S, Alreshidan Mohammed, Algamdi Mohmmed A
Intensive Care Department, Aseer Central Hospital, Abha, Saudi Arabia.
Critical Care Services Administration, King Fahad Medical City, Riyadh, Saudi Arabia.
Am J Ophthalmol Case Rep. 2022 Apr 29;26:101548. doi: 10.1016/j.ajoc.2022.101548. eCollection 2022 Jun.
Familial retinal arterial macroaneurysm (FRAM) is a rare genetic disorder caused by a gene mutation in the insulin-like growth factor binding protein 7 (IGFBP7).
We report a 30-year-old male with FRAM and IGFBP7 gene mutation who presented with an acute coronary syndrome (ACS). Invasive coronary angiography revealed a large aneurysm at the proximal part of the left anterior descending (LAD) artery.
Few cases with systemic vascular involvement in patients with FRAM have been described before; however, our case represents the first documentation of a LAD artery aneurysm in a patient with FRAM and IGFBP7 gene mutation.
家族性视网膜动脉大动脉瘤（FRAM）是一种由胰岛素样生长因子结合蛋白7（IGFBP7）基因突变引起的罕见遗传性疾病。
我们报告了一名患有FRAM和IGFBP7基因突变的30岁男性，他出现了急性冠状动脉综合征（ACS）。有创冠状动脉造影显示左前降支（LAD）动脉近端有一个大动脉瘤。
此前很少有关于FRAM患者出现全身血管受累的病例报道；然而，我们的病例是首例记录有FRAM和IGFBP7基因突变患者出现LAD动脉动脉瘤的情况。
