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Diagnostic uncertainties and future perspectives in noncompaction cardiomyopathy

机译：非致密性心肌病的诊断不确定性和未来展望

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Background: Noncompaction cardiomyopathy (NCCM) is a new pathoanatomic entity, disputably believed to result from abnormal arrest in embryonic endomyocardial morphogenesis. During almost three decades of research of NCCM, more knowledge has developed alongside diagnostic uncertainties and precise definition. In this article, we present these uncertainties and provide perspectives on how to overcome these challenges. Areas covered: The uncertainties, about NCCM regarding nomenclature, classification, pathophysiology, and limitations of the current diagnostic criteria will be reviewed. The application of newer imaging modalities will be contrasted in relation to conventional assessments. Finally, future aspirations will be outlined providing a more thoughtful appraisal toward NCCM diagnosis. Expert opinion: Our current understanding of NCCM is limited by heterogeneity of disease spectrum and phenotypegenotype overlap with other cardiac anomalies. Selection bias, small sampling, and retrospective nature limit most of published studies on NCCM. There are three main research fields related to NCCM: pathoanatomic studies, imaging studies, and genetic screening. Besides conventional echocardiography, imaging should include both structural (cardiac MRI, contrast and 3D echocardiography) and functional diagnosis using deformation imaging. These research aspects should be integrated in a collaborative international registry of nonselective populations in order to achieve better understanding and optimal diagnosis of NCCM. Moreover, it holds the promise of the detection of earlier stages of disease. A clear pathoanatomic cut-off definition of NCCM should be the initial step toward uniform imaging diagnosis.
机译：背景：非致密性心肌病（NCCM）是一种新的病理解剖学实体，据认为是由胚胎内膜心肌形态发生异常停滞引起的。在近30年的NCCM研究中，除了诊断不确定性和精确定义外，还获得了更多的知识。在本文中，我们介绍了这些不确定性，并提供了有关如何克服这些挑战的观点。涵盖的领域：将审查关于NCCM在术语，分类，病理生理以及当前诊断标准的局限性方面的不确定性。较传统的评估方法将对比使用较新的成像方法。最后，将概述未来的愿望，以便对NCCM诊断进行更周到的评估。专家意见：我们目前对NCCM的理解受到疾病谱的异质性和表型基因型与其他心脏异常重叠的限制。选择偏差，小样本和追溯性质限制了大多数已发表的关于NCCM的研究。与NCCM有关的三个主要研究领域是：病理解剖学，影像学和基因筛查。除了常规超声心动图，成像还应包括结构（心脏MRI，对比和3D超声心动图）和使用变形成像的功能诊断。这些研究内容应整合到非选择性人群的国际合作注册中，以更好地理解和最佳诊断NCCM。而且，它具有检测疾病早期阶段的希望。明确NCCM的病理解剖学界限应该是朝着统一影像学诊断迈出的第一步。

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