Genetics in Cardiomyopathies
The 15 questions most frequently asked by patients with hypertrophic cardiomyopathy (HCM) during pre- and post-test genetic counseling sessions.
Pediatric cardiomyopathies: initial encouraging results in gene therapy studies. This was discussed in Florence on 13-14 April 2023 at the congress "Advances in pediatric heart failure: congenital heart disease and cardiomyopathies", organized by Prof. Olivotto, Dr. Favilli (Florence) and Prof Kaski (London), and supported by the Menarini Foundation.
In 2021 Michael Alexanian, Phd, combining his interest in epigenomics with heart disorders, together with colleagues from the Gladstone Institute made a revolutionary discovery: the MEOX1 gene, responsible together with other genes, for cardiac fibrosis.
If a parent has cardiomyopathy, should the minor child be subjected to genetic testing? On this delicate and complex subject there are specific guidelines at American and European level. Francesca Girolami, geneticist, who works at the Meyer pediatric hospital in Florence, tells us about it, where there is a Cardiogenetics laboratory belonging to the Pediatric Cardiology facility consisting of a team of two geneticists and seven cardiologists.
The Careggi Genetic Diagnostics Center in Florence is now a center of excellence in Italy for hereditary heart disease, and is an integral part of the team that allows us to reconstruct the familial nature of hypertrophic cardiomyopathies and act as a powerful prevention tool.
