Liu Rui-Lin, Yang Yi-Feng, Gong Ke, Wang Lei, Yao Yao, Xie Li
Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
The Clinical Center for Gene Diagnosis and Therapy, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
BMC Genomics. 2025 Feb 17;26(1):150. doi: 10.1186/s12864-025-11323-4.
Primary cardiomyopathies are major causes of heart failure, placing a substantial burden on both individuals and society. Revealing its genetic profiles can lead to a better understanding of the mechanism and is critical for disease prevention and treatment.
Primary cardiomyopathy patients were enrolled and whole exome sequence was conducted to analyze their genetic profiles. Retrospective clinical information extraction and analysis of sequence data were implemented.
A total of 77 primary cardiomyopathy patients were enrolled, comprising 65 patients with dilated cardiomyopathy (DCM) and 12 with hypertrophic cardiomyopathy (HCM). Among the DCM patients, 13 variants classified as pathogenic (P) or likely pathogenic (LP) were identified in 12 patients (18.46%), predominantly in genes associated with the nuclear envelope and sarcomere. Among HCM patients, 6 P/LP variants were discovered in 6 (50%) patients. Taking variants of uncertain significance (VUS) into consideration, an analysis of the association between the number of variants carried by patients and their clinical characteristics revealed that DCM patients with more than one variant had a higher proportion of hyperuricemia.
We map a comprehensive profile of primary cardiomyopathy in Chinese population and, for the first time, identify a possible association between hyperuricemia and the number of genetic variants carried by DCM patients.
原发性心肌病是心力衰竭的主要原因，给个人和社会都带来了沉重负担。揭示其基因图谱有助于更好地理解发病机制，对疾病的预防和治疗至关重要。
招募原发性心肌病患者，进行全外显子组测序以分析其基因图谱。实施回顾性临床信息提取和序列数据分析。
共招募了77例原发性心肌病患者，其中包括65例扩张型心肌病（DCM）患者和12例肥厚型心肌病（HCM）患者。在DCM患者中，12例患者（18.46%）鉴定出13个分类为致病（P）或可能致病（LP）的变异，主要存在于与核膜和肌节相关的基因中。在HCM患者中，6例（50%）患者发现了6个P/LP变异。考虑到意义未明的变异（VUS），对患者携带的变异数量与其临床特征之间的关联分析显示，携带多个变异的DCM患者高尿酸血症的比例更高。
我们绘制了中国人群原发性心肌病的综合图谱，并首次确定高尿酸血症与DCM患者携带的基因变异数量之间可能存在关联。
