Todiere Giancarlo, Della Vecchia Stefania, Morales Maria Aurora, Barison Andrea, Ricca Ivana, Tessa Alessandra, Colombi Elisa, Santorelli Filippo Maria
Cardiothoracic Department, Fondazione Monasterio, Pisa, Italy.
Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
Front Neurol. 2022 Aug 22;13:942667. doi: 10.3389/fneur.2022.942667. eCollection 2022.
Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases. Although cardiac MRI is already used for the diagnosis and characterization of some forms of storage diseases involving the myocardium, it has not yet been used to study myocardial involvement in neuronal ceroid lipofuscinosis (NCL). Here, we describe comprehensive cardiac MRI findings in a patient with the CLN3 form of NCL showing basal inferior interventricular septal hypertrophy with maintained indexed LV mass within reference values and low T1-native values. MRI findings support a finding of abnormal storage material within the myocardium in CLN3 disease. We recommend the possible routine use of cardiac MRI for early diagnosis of cardiac involvement in CLN3 disease (also termed juvenile NCL) and to monitor the effects of emerging CLN3 therapies on the myocardium as well.
心脏磁共振成像（MRI）是研究肥厚型心肌病（HCM）以及区分HCM与心室壁增厚疾病（如心脏贮积病）的重要工具。尽管心脏MRI已用于诊断和表征某些累及心肌的贮积病，但尚未用于研究神经元蜡样脂褐质沉积症（NCL）的心肌受累情况。在此，我们描述了一名CLN3型NCL患者的全面心脏MRI表现，显示基底室间隔下壁肥厚，左心室质量指数维持在参考值范围内，T1值较低。MRI表现支持CLN3病心肌内存在异常贮积物质的发现。我们建议可能常规使用心脏MRI来早期诊断CLN3病（也称为青少年NCL）的心脏受累情况，并监测新兴的CLN3疗法对心肌的影响。
