LAUSR

Abstract Restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease accounting for just 2 to 5% of paediatric cardiomyopathies. It is characterised by increased myocardial stiffness and restrictive filling pattern in to the left ventricle. Idiopathic RCM with no obvious identifiable cause is the most common form of the disease. RCM can also be a secondary manifestation of miscellaneous systemic conditions. Typical examples include infiltrative and storage disorders, systemic inflammatory diseases, tumors and drug toxicity. RCM-specific mutations have been identified in several genes encoding sarcomeric proteins. Patients with RCM have heart failure symptoms related to diastolic dysfunction. Unfortunately, there is no curative treatment for RCM and the prognosis is generally very poor. Cardiac transplantation is the only effective treatment. High risk of sudden cardiac death justifies early listing especially in symptomatic children. When making the diagnosis of RCM, it is crucial to rule out constrictive pericarditis which presents with a similar clinical and haemodynamic picture. Unlike RCM it can often be cured surgically.