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Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype-phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the gene. This is the first description of -dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of splicing alterations.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872028 | PMC |
| http://dx.doi.org/10.3390/genes13020309 | DOI Listing |
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