Leclercq Thibault, Falcon-Eicher Sylvie, Farnier Michel, Le Bret Emmanuel, Maudinas Raphaëlle, Litzler-Renault Stéphanie, Mousson Christiane, Lorgis Luc, Cottin Yves
Department of Cardiology, Dijon University Hospital, 21000 Dijon, France.
Lipid Clinic, Point Médical, 21000 Dijon, France.
Eur Heart J Case Rep. 2020 Jan 13;4(1):1-5. doi: 10.1093/ehjcr/ytz233. eCollection 2020 Feb.
Familial hypercholesterolaemia is a well-known disorder, but clinical diagnoses tend to be delayed. Acute coronary syndrome may occur in childhood.
Our patient, a young boy with homozygous familial hypercholesterolaemia, complained of persistent chest pain at rest and suffered a non-ST-elevation myocardial infarction (NSTEMI). The diagnosis of NSTEMI was made on the basis of his clinical features, dynamic electrocardiogram changes, troponin elevation, and cardiac computed tomography findings. The patient was managed surgically by intrathoracic artery (ITA) bypass graft. During post-operative follow-up, the young patient suffered from angina pectoris from unexpected and exceptional atheroma stenosis on the ITA.
Familial hypercholesterolaemia needs to be identified quickly in young patients and lipid lowering therapies should be started without delay.
家族性高胆固醇血症是一种广为人知的疾病，但临床诊断往往会延迟。急性冠状动脉综合征可能在儿童期发生。
我们的患者是一名患有纯合子家族性高胆固醇血症的小男孩，主诉静息时持续胸痛，并发生了非ST段抬高型心肌梗死（NSTEMI）。NSTEMI的诊断基于其临床特征、动态心电图变化、肌钙蛋白升高以及心脏计算机断层扫描结果。该患者通过胸内动脉（ITA）搭桥手术进行治疗。在术后随访期间，这位年轻患者因ITA上意外且特殊的动脉粥样硬化狭窄而患上心绞痛。
需要在年轻患者中迅速识别家族性高胆固醇血症，并应立即开始降脂治疗。
