Abati Elena, Alberti Claudia, Tambè Valentina, Esseridou Anastasia, Comi Giacomo Pietro, Corti Stefania, Meola Giovanni, Secchi Francesco
Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan, Italy.
Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Front Neurol. 2024 Nov 21;15:1493570. doi: 10.3389/fneur.2024.1493570. eCollection 2024.
Non-invasive evaluation of myocardial tissue is a major goal of cardiac imaging. This is the case of myocardial fibrosis which is crucial in many myocardial diseases. Cardiac extracellular volume (ECV) was shown to indicate myocardial fibrosis and early cardiac involvement. With this study, our objective is to evaluate ECV measured with cardiac magnetic resonance (CMR) in patients with myotonic dystrophy type 1 (DM1) and 2 (DM2) as potential imaging biomarkers of subclinical cardiac pathology, and its relationship with demographic and clinical parameters, ECG-derived measures of cardiac conduction, and neuromuscular performance status.
We retrospectively analyzed 18 DM1 patients and 4 DM2 patients without apparent cardiac disease who had CMR at our center. Differences between independent distributions were evaluated using Mann-Whitney U test, while correlations were evaluated using Spearman's .
Global ECV in DM1 patients (median 28.36; IQR 24.81-29.77) was significantly higher ( = 0.0141) than in DM2 patients (median 22.93; IQR 21.25-24.35), and than that reported in literature in healthy subjects ( = 0.0374; median 25.60; IQR 19.90-31.90). Septal ECV was significantly higher ( = 0.0074) in DM1 (median 27.37; IQR 25.97-29.74) than in DM2 patients (median 22.46; 21.57-23.19). Global ECV showed a strong, positive correlation with septal ECV ( = 0.9282, < 0.0001). We observed that DM1 women showed significantly higher global ( = 0.0012) and septal ( < 0.0001) ECV values compared to men.
We found a significant increase in global and septal cardiac ECV in patients with DM1. These values might thus suggest that DM1 patients present an increased cardiovascular risk, mainly due to cardiac fibrosis, even in absence of overt cardiac pathology at other common cardiovascular exams. DM1 patients may also be at increased risk of early septal fibrosis, with important implications on the risk for fatal arrhythmias. In addition, our results suggest the presence of gender-related differences, with DM1 women being more prone to myocardial fibrosis. Physicians dealing with DM1 may consider CMR as a screening tool for the early identification of patients with increased cardiovascular risk.
心肌组织的无创评估是心脏成像的主要目标。在许多心肌疾病中至关重要的心肌纤维化就是这种情况。心脏细胞外容积（ECV）已被证明可指示心肌纤维化和早期心脏受累情况。通过本研究，我们的目的是评估在1型强直性肌营养不良（DM1）和2型强直性肌营养不良（DM2）患者中利用心脏磁共振成像（CMR）测量的ECV，将其作为亚临床心脏病理的潜在成像生物标志物，并评估其与人口统计学和临床参数、心电图衍生的心脏传导测量值以及神经肌肉功能状态之间的关系。
我们回顾性分析了在我们中心接受CMR检查的18例无明显心脏疾病的DM1患者和4例DM2患者。使用曼-惠特尼U检验评估独立分布之间的差异，同时使用斯皮尔曼相关系数评估相关性。
DM1患者的整体ECV（中位数28.36；四分位数间距24.81 - 29.77）显著高于DM2患者（中位数22.93；四分位数间距21.25 - 24.35）（P = 0.0141），也高于文献报道的健康受试者的ECV（P = 0.0374；中位数25.60；四分位数间距19.90 - 31.90）。DM1患者的室间隔ECV（中位数27.37；四分位数间距25.97 - 29.74）显著高于DM2患者（中位数22.46；21.57 - 23.19）（P = 0.0074）。整体ECV与室间隔ECV呈强正相关（r = 0.9282，P < 0.0001）。我们观察到，与男性相比，DM1女性的整体（P = 0.0012）和室间隔（P < 0.0001）ECV值显著更高。
我们发现DM1患者的整体和室间隔心脏ECV显著增加。因此，这些值可能表明DM1患者存在心血管风险增加的情况，主要是由于心脏纤维化，即使在其他常见心血管检查中没有明显心脏病理表现。DM1患者早期室间隔纤维化的风险也可能增加，这对致命性心律失常的风险有重要影响。此外，我们的结果表明存在性别相关差异，DM1女性更容易发生心肌纤维化。处理DM1的医生可将CMR视为早期识别心血管风险增加患者的筛查工具。
