Vrettos Apostolos, Monteiro Ricardo Prista, Triantafyllou Miltiadis, Gul Uzma, Bhattacharyya Sanjeev, Lopes Luís R, Antonopoulos Alexios, Protonotarios Alexandros, Lloyd Guy, Gossios Thomas, Savvatis Konstantinos
Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London EC1A 7BE, UK.
Clinical Cardiology at Halmstad Hospital, SE-301 85 Halmstad, Sweden.
Diagnostics (Basel). 2025 Sep 17;15(18):2363. doi: 10.3390/diagnostics15182363.
: Early detection of familial dilated cardiomyopathy (DCM) is crucial for initiating timely interventions. Myocardial work (MW) analysis, which integrates strain imaging and blood pressure, shows promise in identifying subclinical disease. To assess the utility of MW in detecting early myocardial changes in relatives of DCM patients with a positive genotype (G+) compared to genotype-negative (G-) controls. : This study involved asymptomatic relatives of DCM patients who underwent comprehensive echocardiographic evaluation, including MW analysis. Subjects (N = 77) were classified into G+ ( = 39) and ( = 38) groups based on genetic testing. Myocardial work parameters-myocardial global work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE)-were measured. Statistical analyses compared these parameters between groups and assessed their predictive value for genotype status. Follow-up data were collected and analysed accordingly. : Among 77 participants (mean age 36 ± 14 years; 49% women), there were no significant differences in baseline characteristics between G+ and G- groups. S' septal, s' average, e' lateral, E max and E/A were found to be significantly different between the two groups. G+ individuals had significantly reduced GWE (94% vs. 96%, < 0.001) and increased GWW (113 mmHg% vs. 80 mmHg%, = 0.001). After adjustment for significant echocardiographic parameters, GWE (OR = 0.746, 95% CI: 0.560-0.994, = 0.045) and GWW (OR = 1.012, 95% CI: 1.002-1.024, = 0.047) remained significant predictors of gene carrier status in multivariable analysis. The addition of GWE and GWW significantly increased the area under the curve of a model identifying G+ individuals ( < 0.05). During a median period of follow-up of 53 months, 16 (21%) individuals expressed a cardiomyopathy phenotype. There was a significant correlation between increased baseline GWW, reduced GWE, and the expression of cardiomyopathy phenotype. : Myocardial work analysis, specifically GWE and GWW, identifies early myocardial dysfunction in asymptomatic carriers of genetic variants for DCM. These findings suggest that MW could complement traditional imaging in the early detection and management of familial DCM.
家族性扩张型心肌病（DCM）的早期检测对于及时开展干预措施至关重要。心肌做功（MW）分析整合了应变成像和血压，在识别亚临床疾病方面显示出前景。目的是评估MW在检测DCM基因型阳性（G+）患者亲属与基因型阴性（G-）对照者早期心肌变化中的效用。
本研究纳入了接受包括MW分析在内的全面超声心动图评估的DCM患者无症状亲属。根据基因检测将受试者（N = 77）分为G+组（n = 39）和G-组（n = 38）。测量心肌做功参数——心肌整体做功指数（GWI）、整体建设性做功（GCW）、整体浪费做功（GWW）和整体做功效率（GWE）。统计分析比较了两组之间的这些参数，并评估了它们对基因型状态的预测价值。相应地收集和分析随访数据。
在77名参与者（平均年龄36±14岁；49%为女性）中，G+组和G-组的基线特征无显著差异。发现两组之间S'间隔、S'平均值、e'侧壁、E最大值和E/A有显著差异。G+个体的GWE显著降低（94%对96%，P < 0.001），GWW升高（113 mmHg%对80 mmHg%，P = 0.001）。在对显著的超声心动图参数进行调整后，GWE（OR = 0.746，95%CI：0.560 - 0.994，P = 0.045）和GWW（OR = 1.012，95%CI：1.002 - 1.024，P = 0.047）在多变量分析中仍然是基因携带者状态的显著预测指标。添加GWE和GWW显著增加了识别G+个体模型的曲线下面积（P < 0.05）。在中位随访期53个月期间，16名（21%）个体表现出心肌病表型。基线GWW升高、GWE降低与心肌病表型的表达之间存在显著相关性。
心肌做功分析，特别是GWE和GWW，可识别DCM基因变异无症状携带者的早期心肌功能障碍。这些发现表明MW可在家族性DCM的早期检测和管理中补充传统成像方法。
