Restrictive Cardiomyopathy

Restrictive cardiomyopathy is a disease characterized by reduced or normal diastolic ventricular cavity volume and stiff ventricular myocardium that causes intracavitary pressures to markedly rise with only small amounts of filling volume. Early in its course, biventricular systolic function is normal but may deteriorate as the disease progresses. Most cases are idiopathic, but specific etiologies exist (Table 21). Mutations in sarcomeric proteins account for heritable forms of restrictive cardiomyopathy. Some of the mutations that cause HCM also cause restrictive cardiomyopathy or a type of HCM with a restrictive phenotype.