Researchers

Francesca Girolami, Sara Bardi, Laura Berti, Franco Cecchi, Eleonora Servettini, Benedetta Tomberli, Francesca Torricelli, Iacopo Olivotto

Summary

More than 20 years have passed since the discovery of the first sarcomeric gene associated with the onset of hypertrophic heart disease (HCM). During this period the development of modern technologies for the sequencing of the human genome, together with the growth of knowledge on genetics, have made available a specific genetic test for HCM that can be carried out for diagnostic purposes and is widespread in many countries. In the meantime, due to the intensification of the mutual exchange of knowledge between cardiologists and geneticists, the need to discuss the true clinical usefulness of the genetic test has emerged. The prescription of the test has often encountered difficulties on the part of the cardiologist because it is considered of little use in clinical practice even in the face of the high cost. In fact, this resistance runs counter to a number of evidence supporting the need for genetic testing in the management of patients with HCM. These reasons are reviewed in the present work and range from the importance of identifying complex genotypes because they are prognostic of a more unfavorable course of the disease, to the possibility of making diagnoses in doubtful cases by identifying the mutation. , to the point of making a differential diagnosis with the non-sarcomeric forms. Last but not least, it is worth underlining that genetic testing makes it possible to establish the hereditary nature of the disease, making it possible to diagnose, at times, presymptomatic in the family of the proband.

Genetic review and CMI - Girolami