Clinical Characteristics and Pathogenic Gene Analysis of Patients with Different Types of Cardiomyopathy Disease in Xianning City
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.
国家科技期刊平台
NSTL
万方数据
