病毒性心肌炎向扩张型心肌病转变进展的诊断学特征

目的探讨病毒性心肌炎向扩张型心肌病转变进展的临床诊断学特征。 方法回顾性分析2021年9月3日山东省千佛山医院心内科收治的1例由病毒性心肌炎向扩张型心肌病转变患者9年来的临床资料。 结果患者自2012年3月，9年来5次因感冒后出现胸闷、心悸，服用药物控制不佳入院。9年来患者左室射血分数及室间隔厚度随时间显著上下波动，自2018年持续降低。2017年6月心脏MRI显示心室壁广泛变薄，左室舒张末期最大径60.15 mm。基因检测报告提示患者有扩张型心肌病，桥粒斑蛋白(DSP)基因C.2794-2 A>G位点突变，与临床表型相关。患者9年来规律服药且尽量规避疾病相关诱因，心脏的生理结构仍然出现了难以逆转的改变。 结论对于携带有致病基因的扩张型心肌病患者，其发生相关疾病的可能性更大，产生的损害更为严重。因此，推进个体化精准治疗，早期发现相关致病基因，对于早期发现病因、控制疾病进展具有非常重要的意义。

Clinical diagnostic features of viral myocarditis to dilated cardiomyopathy

ObjectiveTo investigate the clinical diagnostic features of viral myocarditis to dilated cardiomyopathy. MethodsThe clinical data of a patient who had a 9-year transformation from viral myocarditis to dilated cardiomyopathy were retrospectively evaluated. ResultsThe patient utilized drugs with insufficient treatment and suffered chest tightness and palpitations 5 times after a cold in 9 years. The patient's left ventricular ejection fraction and interventricular septal thickness varied significantly over the course of 9 years, and they have been declining since 2018. In June 2017, a cardiac MRI revealed significant ventricular wall weakening, with a maximal left ventricular end-diastolic diameter of 60.15 mm. The patient′s genetic test results indicated dilated cardiomyopathy, and the DSP gene′s c. 2974-2 A>G site mutation was discovered. The physiology of the heart remained irreversible even after 9 years of the patient taking medication consistently and attempting to avoid disease-relevant triggers. ConclusionsPatients who carry relevant pathogenic genes are more likely to develop the dilated cardiomyopathy. For the early identification of the cause and the management of illness development, it is crucial to support individualized precision treatment and the early discovery of the associated pathogenic genes.