The aim of this study is to identify genetic variants in genes associated with dilated cardiomyopathy and to compare our data with genetic data related to neurological diseases
Background: Cardiomyopathies constitute a heterogeneous group of diseases; among these, dilated cardiomyopathy (DCM) is considered a non-ischemic myocardial disease characterized by structural and functional abnormalities, including enlargement and dilation of the left ventricle or both ventricles, as well as systolic dysfunction. Recently, particular attention has been paid to common factors influencing many conditions, such as neurological diseases (ND) and cardiovascular diseases (CVD). The aim of this study is to identify genetic variants in genes associated with DCM and to compare our data with genetic data related to ND. Methods: This observational study included a sample of 162 patients with a suspected diagnosis of dilated cardiomyopathy. Sequencing and cluster generation were performed using the Illumina Novaseq X PlusextSeq550Dx system. Variants identified with the gene panel were filtered, and each variant was linked to the diagnostic question suggested by the treating physician and supported by references from the American College of Medical Genetics (ACMG). Results: A total of 133 variants were identified in the filtered cases, of which 105 are variants of uncertain significance (VUS), 21 are classified by the ACMG as likely pathogenic, and 7 are classified as pathogenic. The variants most frequently identified in our series involve the TTN gene, followed by the FLNC gene. Furthermore, the analysis revealed that several genes associated with DCM are common and implicated in neurological disorders (autism spectrum disorders, Alzheimer's disease, frontotemporal dementia, schizophrenia, Parkinson's disease, epilepsy, dementia, and other neurological disorders). Conclusions: Many genes play a pleiotropic role in various diseases; in this case, we identified genes involved in neurological disorders that are also associated with DCM, such as FLNC, MYH6, and TTN, which we have shown also play a role in neurological diseases.
Background: Cardiomyopathies constitute a heterogeneous group of diseases; among these, dilated cardiomyopathy (DCM) is considered a non-ischemic myocardial disease characterized by structural and functional abnormalities, including enlargement and dilation of the left ventricle or both ventricles, as well as systolic dysfunction. Recently, particular attention has been paid to common factors influencing many conditions, such as neurological diseases (ND) and cardiovascular diseases (CVD). The aim of this study is to identify genetic variants in genes associated with DCM and to compare our data with genetic data related to ND. Methods: This observational study included a sample of 162 patients with a suspected diagnosis of dilated cardiomyopathy. Sequencing and cluster generation were performed using the Illumina Novaseq X PlusextSeq550Dx system. Variants identified with the gene panel were filtered, and each variant was linked to the diagnostic question suggested by the treating physician and supported by references from the American College of Medical Genetics (ACMG). Results: A total of 133 variants were identified in the filtered cases, of which 105 are variants of uncertain significance (VUS), 21 are classified by the ACMG as likely pathogenic, and 7 are classified as pathogenic. The variants most frequently identified in our series involve the TTN gene, followed by the FLNC gene. Furthermore, the analysis revealed that several genes associated with DCM are common and implicated in neurological disorders (autism spectrum disorders, Alzheimer's disease, frontotemporal dementia, schizophrenia, Parkinson's disease, epilepsy, dementia, and other neurological disorders). Conclusions: Many genes play a pleiotropic role in various diseases; in this case, we identified genes involved in neurological disorders that are also associated with DCM, such as FLNC, MYH6, and TTN, which we have shown also play a role in neurological diseases.
Personal Genomics