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Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy

European Heart Journal Oct 12, 2017

Sedaghat-Hamedani F, et al. - This research entailed the clinical and genetic characterization of left ventricular non-compaction cardiomyopathy (LVNC) patients. It also gauged the prevalence of variants in known and novel LVNC disease genes. There existed a possibility of the clinical course of symptomatic LVNC being severe. The detected pathogenic variants and distribution of disease genes—a titin-related pathomechanism was disclosed in every fourth patient. This ought to be taken into account in the genetic counselling of patients. A correlation was brought to light between the pathogenic variants in the nuclear proteins Lamin A/C and RBM20 with worse outcome.
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