Hypertrophic cardiomyopathy (HCM) represents the most common genetic heart disease, inherited with an autosomal dominant pattern, incomplete penetrance and variable expressivity. Due to the high HCM heteogeneity with respect instrumental, clinical spectra and course, many researchers focused their attemption on this aspect looking for possible HCM genotype-phenotypes correlations and, even, for a possible genotype-based risk stratification. However, the increasing use of genetic testing in the HCM patients as well as in their relatives (i.e. screening) resulted in a subset of subjects with genotype positive-phenotype negative disease that is individals carrying the mutation for HCM but lacking any pathologic evidence of disease. This particular category raises enourmous doubt about its clinical management (i.e. psichological counselling, sports activities, timing of follow up, early medical treatment, etc).
In recent years, we highlighted the possibility to achieve an optimal clinical characterization of HCM patients throughout an accurate multidimensional analysis of their functional capacity (by means of cardiopulmonary exercise test), their autonomic balance as well as their myocardial repolarization lability (heart rate and QT variability both in temporal and spatial domain). Supporting our approach, most recently (2020) we published a research paper dealing with the importance of a full clinical assessment over the genetic testing analysis in this setting of patients.
Therefore, following our research track, we plan to challenge our non-invasive multidimensional approach with a group of subjects HCM genotype positive-phenotype negative disease in order to disclose (if any) possible pre-clinical signs of the disease.
