Non-compaction cardiomyopathy. Part II: limitations of imaging techniques and genetic screening, clinical observations

Abstract

Improvement of high-tech methods of cardiac imaging and new generation sequencing with their introduction into widespread practice has significantly expanded the potential of diagnosis of rare cardiomyopathies. Modern imaging methods make it easy to reveal the myocardial non-compaction. However, in clinical practice, significant difficulties remain in the differentiation of normal/borderline patterns of increased ventricular trabecularity, morphology of myocardial noncompaction and non-compaction cardiomyopathy (NCM). After three decades of research, verifying the NCM is still a major clinical challenge. A key aspect of this problem is the lack of generally accepted recommendations on the diagnostic criteria for NCM and low number of long-term multicenter studies with segregation analysis on familial NCMs. A promising solution is the development of a multistep algorithm for the diagnosis of NCM with the integration of familial, morphological, genetic and clinical data. The article presents a brief literary review on NCM diagnosis with a discussion of own research and comparative characteristics of clinical and genetic data. To confirm the clinical and molecular heterogeneity of NCM, there are brief clinical observations of mixed phenotypes with a detailed presentation of overlap NCMs in the MOGE(S) classification.