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.

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doi.org/10.1517/17530059.2012.673582, hdl.handle.net/1765/66396
Expert Opinion on Medical Diagnostics
Department of Cardiology

Soliman, O.I.I, Geleijnse, M.L, Caliskan, K.C, Vletter, W.B, & ten Cate, F.J. (2012). Diagnostic uncertainties and future perspectives in noncompaction cardiomyopathy. Expert Opinion on Medical Diagnostics (Vol. 6, pp. 221–233). doi:10.1517/17530059.2012.673582