Restrictive cardiomyopathy

Purpose of review Restrictive cardiomyopathy (RCM) is an uncommon myocardial disease characterized by impaired filling of the ventricles in the presence of normal wall thickness and systolic function. Most affected individuals have severe signs and symptoms of heart failure. A large number die shortly after diagnosis unless they receive a cardiac transplant. Controversy has existed about the exact definition of the condition and diagnostic criteria that will be discussed along with an update on recent findings. Recent findings Previously, RCM was believed to be of idiopathic origin unless otherwise associated with inflammatory, infiltrative or systemic disease. Recent investigations have shown that the condition may be caused by mutations in sarcomeric disease genes and even may coexist with hypertrophic cardiomyopathy in the same family. However, most sarcomeric RCM mutations appear to be de novo and associated with a severe disease expression and an early onset. Summary Recent reports suggest that mutations in sarcomeric contractile protein genes are not uncommon in RCM. These findings imply that RCM may be hereditary, and that clinical assessment of relatives should be considered in addition to genetic investigations when systemic disease has been excluded. Identification and risk stratification of affected relatives is important to avoid adverse disease complications and diminish the rate of sudden death.