Marilena Melas

Dr. Marilena Melas


Research Focus & Metrics

Academic Career Length

5Years (2022-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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28 December 2022 in Journal of Clinical Medicine
Verified
Journal Article
Open access
PDF file
MMMarilena Melas
Marilena Melas
EBEleftherios Beltsios
Eleftherios Beltsios
AAAntonis Adamou
Antonis Adamou
KKKonstantinos Eleftherios Koumarelas
Konstantinos Eleftherios Koumarelas
KMKim L McBride
Kim L McBride
Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with the presence of left ventricular hypertrophy (LVH). The disease is characterized by high locus, allelic and phenotypic heterogeneity, even among members of the same family. The list of confirmed and potentially relevant genes implicating the disease is constantly increasing, with novel genes frequently reported. Heterozygous alterations in the five main sarcomeric genes (MYBPC3, MYH7, TNNT2, TNNI3, and MYL2) are estimated to account for more than half of confirmed cases. The genetic discoveries of recent years have shed more light on the molecular pathogenic mechanisms of HCM, contributing to substantial advances in the diagnosis of the disease. Genetic testing applying next-generation sequencing (NGS) technologies and early diagnosis prior to the clinical manifestation of the disease among family members demonstrate an important improvement in the field.