关键词: 肌钙蛋白I3; 肥厚型心肌病; 静脉溶栓; 机械取栓; 急性缺血性卒中

Abstract: This article reports the diagnosis and treatment process of a 39-year-old male patient who presented with acute ischemic stroke secondary to hypertrophic cardiomyopathy (HCM) caused by a p.Arg145Gln mutation in the troponin I3, cardiac type (TNNI3) gene. The patient initially manifested with left-sided limb weakness. Vascular recanalization was achieved through intravenous thrombolysis combined with mechanical thrombectomy. Subsequent evaluations confirmed HCM accompanied by atrial flutter and third-degree atrioventricular block. Anticoagulation therapy with rivaroxaban was adopted. During a 10-month follow-up period, no recurrence of stroke was observed. The patient’s younger sister also carries a homozygous mutation at the same locus in the TNNI3 gene, but only mild left atrial enlargement is observed. This case suggests that TNNI3 mutation-related HCM represents a rare etiology of ischemic stroke in young adults. Additionally, sex may be an important factor influencing its clinical phenotype, providing clinical evidence for etiological exploration and individualized management of ischemic stroke in this population.

Key words: Troponin l3, cardiac type; Hypertrophic cardiomyopathy; Intravenous thrombolysis; Mechanical thrombectomy; Acute ischemic stroke