Background:Dilated cardiomyopathy (DCM) is an important cause of heart failure and cardiac transplantation. This study determined the prevalence of DCM-associated genes and evaluated the genotype-phenotype correlation in Vietnamese patients.

Methods and Results:This study analyzed 58 genes from 230 patients. The study cohort consisted of 64.3% men; age at diagnosis 47.9±13.7 years; familial (10.9%) and sporadic DCM (82.2%). The diagnostic yield was 23.5%, 44.0% in familial and 19.6% in sporadic DCM.TTNtruncating variants (TTNtv) were predominant (46.4%), followed byTPM1,DSP,LMNA,MYBPC3,MYH6,MYH7,DES,TNNT2,ACTC1,ACTN2,BAG3,DMD,FKTN,PLN,TBX5,RBM20,TCAP(2–6%). Familial DCM, genotype-positive andTTNtv-positive patients were younger than those with genotype-negative and sporadic DCM. Genotype-positive patients displayed a decreased systolic blood pressure and left ventricular wall thickness compared to genotype-negative patients. Genotype-positive patients, particularly those withTTNtv, had a family history of DCM, higher left atrial volume index and body mass index, and lower right ventricle-fractional area change than genotype-negative patients. Genotype-positive patients reached the combined outcomes more frequently and at a younger age than genotype-negative patients. Major cardiac events occurred more frequently in patients positive with genes other thanTTNtv.

Conclusions:The study findings provided an overview of Vietnamese DCM patients’ genetic profile and suggested that management of environmental factors may be beneficial for DCM patients.

背景：扩张型心肌病（DCM）是心力衰竭和心脏移植的重要原因。本研究确定了 DCM 相关基因的流行率，并评估了越南患者的基因型-表型相关性。

方法和结果：本研究分析了来自 230 名患者的 58 个基因。研究队列由 64.3% 的男性组成；诊断年龄 47.9±13.7 岁；家族性 (10.9%) 和散发性 DCM (82.2%)。诊断率为 23.5%，家族性 DCM 为 44.0%，散发性 DCM 为 19.6%。TTN截断变体 ( TTN tv) 占主导地位 (46.4%)，其次是TPM1、 DSP、 LMNA、 MYBPC3、 MYH6、 MYH7、 DES、 TNNT2、 ACTC1、 ACTN2、 BAG3、 DMD、 FKTN、 PLN、 TBX5, RBM20 , TCAP (2–6%)。家族性 DCM、基因型阳性和TTN tv 阳性患者比基因型阴性和散发性 DCM 患者年轻。与基因型阴性患者相比，基因型阳性患者的收缩压和左心室壁厚度降低。基因型阳性患者，尤其是TTN tv 患者，与基因型阴性患者相比，有 DCM 家族史，左心房容积指数和体重指数较高，右心室分数变化较低。与基因型阴性患者相比，基因型阳性患者更频繁且更年轻地达到综合结果。其他基因阳性的患者更常发生主要心脏事件TTN电视。

结论：研究结果概述了越南 DCM 患者的遗传特征，并表明环境因素的管理可能对 DCM 患者有益。