The epidemiologic evolution and present perception of hypertrophic cardiomyopathy

Patients with rare diseases are confronted by limited attention from the scientific community, a delayed diagnosis, a limited availability of resources and high costs of treatment. Although hypertrophic cardiomyopathy (HCM) does not meet the criteria for rare diseases, many physicians are uncomfortable with the disease, and patients still pay a price for the perceived "rarity" of HCM. In the year 2000, as part of a large research project on cardiovascular disease prevention (Progetto Cuore), the Italian Institute of Health has approved and funded a National Registry of HCM. The aims of the registry included: the collection of clinical data for HCM patients in different geographical areas; the creation of a network of cardiologists involved in the care of HCM patients; and an improved access of patients to the most advanced treatment options. It is our hope that the registry will be imitated by other countries, and that it will contribute to overcome the limitations of "rarity" in HCM research.