Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy is the most frequent genetic cardiac disease (prevalence 1/500) and a leading cause of sudden cardiac death in the young. Recent advances in molecular genetics have deeply renewed our knowledge of this pathology by identifying the key role of sarcomeric proteins and suggesting that mutations induce a gain in function with hypercontractility as the main determinant of the pathophysiology. These molecular advances have paved the way for a number of studies that have revisited the natural history of the disease, led to a better understanding of the broad range of the underlying etiologies, the development of integrated genetic counseling and genetic testing and finally recently opened the door to new therapeutic strategies, either pharmacological or genetic approaches.