The disease is associated with the myofibrillar disarray and leads to cardiac hypertrophy.
Many patients are asmptomatic.
However, the disease may lead to shortness of breath, palpitations, heart failure or sudden death. Some individuals with the disease die during childhood whereas others survive to the 6th to 7th decades of their lives. In addition, the disease is associated with mutations in various proteins. These observations suggest that familial hypertrophic cardiomyopathy may not be a single disease, rather it may represent a heterogeneous group of disorders. In the May 3 issue of Science, Geisterfer-Lowrance et al describe the development of a mouse model of the disease.