咸宁市不同类型心肌病患者临床特征及致病基因分析
Clinical Characteristics and Pathogenic Gene Analysis of Patients with Different Types of Cardiomyopathy Disease in Xianning City
王淼 1孙俊 2朱军义 3王多顺 1谢妙灵 4林子怡 4张维5
作者信息
- 1. 咸宁市中心医院/湖北科技学院附属第一医院心内科,湖北 咸宁 437100
- 2. 崇阳县人民医院重症医学科
- 3. 咸宁市妇幼保健院麻醉科
- 4. 湖北科技学院医学部基础医学院
- 5. 咸宁市中心医院I期临床研究中心
- 折叠
摘要
目的 回顾性分析咸宁市扩张型心肌病(DCM)和肥厚型心肌病(HCM)患者的临床特征,以揭示该地区两种类型心肌病患者的特点.识别患者的致病性遗传变异,为临床诊断和遗传咨询提供科学依据.方法 收集咸宁市中心医院收治的心肌病患者的临床数据,使用SPSS 26.0 软件分析.并进行全外显子组测序(WES),评估候选变异的致病性.结果 纳入255 例患者,DCM 121 例,HCM 134 例.DCM组男性占比高(78.5%),心功能分级较差.DCM患者左室射血分数降低率高于HCM患者.DCM组B型血浆脑钠肽(BNP)水平显著升高.WES发现4 个致病突变,包括一个新突变MYBPC3 c.2669G＞A(NM_000256.3).结论 及时进行WES与密切监测BNP水平、心功能分级,可以为心肌病的早期诊断及个体化治疗提供帮助.
Abstract
Objective To retrospectively analyze the clinical characteristics and treatment interventions of patients with di-lated cardiomyopathy(DCM)and hypertrophic cardiomyopathy(HCM)in Xianning city to reveal the characteristics of patients with the two types of cardiomyopathy in the region,and to identify the pathogenic genetic variations of patients to provide a scientific ba-sis for clinical diagnosis and genetic counseling.Methods Clinical data from the patients who admitted to the Xianning Central Hospital from January 2021 to August 2024 with cardiomyopathy were collected and analyzed using SPSS 26.0 software.Whole Exome Sequencing(WES)was performed to assess the pathogenicity of candidate variations.Results A total of 255 patients were included,with 121 cases of DCMand 134 cases of HCM.The DCMgroup had a higher proportion of males(78.5%)and poorer heart function classification.The rate of reduced left ventricular ejection fraction in DCM patients was higher than in HCM pa-tients.The levels of B-type Natriuretic Peptide(BNP)in the DCMgroup were significantly elevated.WES identified fourpathogenic mutations,including a novel mutation MYBPC3 c.2669G＞A(NM_000256.3).Conclusion Timely WES and close monitoring of BNP levels and cardiac function classification can help with early diagnosis and individualized treatment of cardiomyopathy.
关键词
扩张型心肌病/肥厚型心肌病/临床特征/基因检测Key words
Dilated cardiomyopathy/Hypertrophic cardiomyopathy/Clinical characteristics/Genetic testing引用本文复制引用
出版年
2025
国家科技期刊平台
NSTL
万方数据