Searching for genetic determinants for left ventricular non-compaction.

ABSTRACT:

Background

Left ventricular non-compaction (LVNC) is still a pathology around which there are numerous controversies regarding the criteria for its diagnosis, presentation, prognosis, and even classification into the appropriate group of diseases. So far, about 190 genes in which mutations may be associated with LVNC have been described, and in each of them, several to several dozen different loci have been discovered. We decided to analyze the frequency of single nucleotide variants (SNVs) in correlation to Petersen's criteria.

Methods

We retrospectively analyzed the results of cardiac magnetic resonance (CMR) studies. Twenty-three patients who met Petersen's criteria agreed to participate in the research and take blood samples for genetic testing. Next, we prospecti

SUBMITTER: Spalek M 

PROVIDER: S-EPMC11485346 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature