【摘要】 目的 分析TNNT2基因突变相关肥厚型心肌病患者的临床表型与基因型特点。方法 回顾性分析2023年1-12月武汉亚洲心脏病医院收治并行基因检测的肥厚型心肌病患者的临床资料。结果 2023年间武汉亚洲心脏病医院收治且进行基因检测的HCM患者共93例，其中3例携带TNNT2突变基因，均为青少年，女2例，男1例，确诊时年龄14～17岁，平均(15.67±1.25)岁。心悸2例，晕厥史1例，流出道梗阻1例，疑似猝死家族史2例，3例患者临床表现均有所区别。其中1例患者为先天性心脏病术后，出生后定期检查心脏彩超，于13岁时发现心肌增厚情况，进展较快，心肌肥厚较为严重。3例患者均采用美托洛尔进行长期药物治疗，其中1例患者接受皮下植入式心律转复除颤器植入，1例患者行改良Morrow手术。结论TNNT2基因突变所致肥厚型心肌病患者可能更加年轻，心肌肥厚表现不明显，临床表现缺乏特异性，基因型与表型间关联性并不明确。更多还原

【Abstract】 Objective To investigate the clinical phenotype and genotype characteristics of patients with hypertrophic cardiomyopathy associated with TNNT2 gene mutation. Methods Retrospective analysis of clinical data of patients with hypertrophic cardiomyopathy who were treated and underwent genetic testing at Wuhan Asian Heart Hospital between January and December 2023. Results A total of 93 patients with HCM were treated and tested, including 3 patients carrying the TNNT2 mutation gene, all of whom were adolescents, two cases of palpitations, one case with a history of syncope, one case with a history of outflow tract obstruction, two cases with a family history of suspected sudden death, clinical manifestations were different in all 3 patients. One of the patients was a postoperative congenital heart disease with regular echocardiographic examinations after birth, and myocardial thickening was detected at the age of 13 years, however, the progression is faster and the cardiac hypertrophy is more severe. All three patients were treated with long-term pharmacological therapy with metoprolol, one patient received subcutaneous implantable cardioverter-defibrillator(S-ICD) implantation and one patient underwent a modified Morrow procedure. Conclusions Patients with hypertrophic cardiomyopathy carrying the TNNT2 variant are likely to be younger, with less pronounced manifestations of myocardial hypertrophy, but with a lack of specificity in clinical presentation and an unclear association between genotype and phenotype.更多还原