Patients with bi-allelic loss-of-function mutations in the gene ANO5 most commonly present with muscular dystrophy. In some studies, patients with ANO5-related dystrophy (ANO5-RD) had evidence of mild cardiac abnormalities; however, cardiac magnetic resonance imaging (MRI) has not been used for myocardial characterization. Ten patients with genetically confirmed ANO5-RD were enrolled in a phenotyping study to better characterize cardiac involvement. Evaluations included medical history, neurological examination and cardiac evaluations (electrocardiogram, echocardiogram and cardiac MRI). All patients were clinically asymptomatic from a cardiac perspective. Muscle MRI was consistent with previous studies of ANO5-RD with increased T1 signal in the posterior and medial compartments of the upper leg and the posterior compartment of the lower leg. Cardiac studies using echocardiography and cardiac MRI revealed dilation of the aortic root and thickening of the aortic valve without significant stenosis in 3/10 patients. There was evidence of abnormal late gadolinium enhancement (LGE) on cardiac MRI in 2/10 patients. In ANO5-RD, the development of cardiac fibrosis, edema or inflammation as demonstrated by LGE has not yet been reported. Cardiac MRI can characterize cardiac tissue and may detect subtle changes before they appear on echocardiography, with potential prognostic implications.

中文翻译：

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心脏 MRI 可识别 ANO5 相关肌营养不良患者亚组的瓣膜和心肌疾病

ANO5 基因双等位基因功能丧失突变的患者最常出现肌营养不良症。在一些研究中，ANO5 相关性营养不良 (ANO5-RD) 患者有轻度心脏异常的证据；然而，心脏磁共振成像 (MRI) 尚未用于心肌表征。10 名基因证实的 ANO5-RD 患者参加了一项表型研究，以更好地表征心脏受累。评估包括病史、神经系统检查和心脏评估（心电图、超声心动图和心脏 MRI）。从心脏的角度来看，所有患者均无临床症状。肌肉 MRI 与先前的 ANO5-RD 研究一致，在大腿后部和内侧隔室以及小腿后部隔室中 T1 信号增加。使用超声心动图和心脏 MRI 的心脏研究显示 3/10 患者的主动脉根部扩张和主动脉瓣增厚，但没有明显狭窄。2/10 患者的心脏 MRI 显示有异常晚期钆增强 (LGE) 的证据。在 ANO5-RD 中，尚未报道 LGE 所证明的心脏纤维化、水肿或炎症的发展。心脏 MRI 可以表征心脏组织，并可以在超声心动图上出现细微变化之前检测到这些变化，具有潜在的预后意义。尚未报道 LGE 所证明的心脏纤维化、水肿或炎症的发展。心脏 MRI 可以表征心脏组织，并可以在超声心动图上出现细微变化之前检测到这些变化，具有潜在的预后意义。尚未报道 LGE 所证明的心脏纤维化、水肿或炎症的发展。心脏 MRI 可以表征心脏组织，并可以在超声心动图上出现细微变化之前检测到这些变化，具有潜在的预后意义。