Hypertrophic cardiomyopathy: Diagnosis and therapeutic options

Hypertrophic cardiomyopathy is an underdiagnosed genetic disorder, resulting from mutations in sarcomeric proteins. It has a highly variable clinical presentation, with some individuals remaining asymptomatic and others having significant limitation of functional status. The disorder is typically characterized by left ventricular hypertrophy that is not explained by another cause. Patients are further classified based on whether there is obstruction of the left ventricular outflow tract. To-date, there are no pharmacologic therapies that alter the natural history of the disease. Therapeutic approaches have instead focused on symptom relief and prevention of sudden cardiac death. Newer therapies under investigation represent potential means to improve limiting symptoms.