Restrictive Cardiomyopathies: Diagnosis and Management

Restrictive cardiomyopathy (RCM) is the least common among cardiomyopathies, it can be idiopathic,
familial (autosomal or X-linked, dominant or recessive) or secondary to systematic disorders. Patients
commonly present with symptoms and signs of congestive heart failure (HF). Electrocardiographic
findings are non-specific and include supraventricular and ventricular arrhythmias, atrioventricular
conduction and QRS complex abnormalities. Echocardiography and cardiac magnetic resonance
(CMR) play a major role in diagnosis, while cardiac computed tomography (CT) and nuclear imaging
assist in specific conditions. Echocardiography reveals normal-sized or hypertrophied ventricles, atrial
enlargement and preserved systolic and impaired diastolic function, often with restrictive filling pattern.
CMR with a higher spatial resolution than echocardiography provides detailed information about
anatomy, perfusion, ventricular function and tissue characterization. Also CMR with late gadolinium
enhancement (LGE) and myocardial mapping can direct the diagnosis to specific subtypes of RCM,
depending on the pattern of scar formation. Endomyocardial biopsy may be required if non-invasive
studies fail to pose diagnosis. Differentiation between RCM and constrictive pericarditis (CP),
nowadays by echocardiophy, is important since both present as HF with preserved ejection fraction
but CP can be treated, while the treatment options of RCM depend on the underlying condition.
Prognosis is generally poor despite optimal medical treatment.