Novel <i>FLNC</i> Gene Variant Associated with Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting approximately 1 in 500 people. It is the most common genetic cardiomyopathy inherited as a Mendelian trait in approximately 50% of patients, mainly due to pathogenic variants in genes encoding sarcomeric proteins. Mutations in the sarcomeric protein filamin C (<em>FLNC</em>) gene, with a cytogenetic localization on 7q32.1, have been linked to hypertrophic cardiomyopathy, as they have been determined to increase the risk of ventricular arrhythmia and sudden death. We present the case of a patient with HCM recognized by magnetic resonance imaging and echocardiography with a family history of cardiopathies. The molecular study in this patient was performed by next-generation sequencing on the Illumina MiniSeq instrument, comparing the results with international databases. In genetic studies, a novel mutation in the protein <em>FLNC</em> was detected. It is heterozygous, missence type. It is a variant where Cytosine is changed by timina at position 6305 of the <em>FLNC</em> gene. This produces the change of the amino acid proline by leucine at position 2102 of the Filamin C protein. The rare variant is located in Ig-like domain 19 within the ROD2 domain. This variant report suggests that there may indeed be a direct relationship between <em>FLNC</em> variants, mainly the ROD2 domain, and HCM. We think this new result should be considered for future genetic counseling of families affected by this type of cardiomyopathy.