Restrictive Cardiomyopathy

Background

• Restrictive cardiomyopathy (RCM) is disease of heart muscle characterized by impaired ventricular filling with typically preserved systolic function and normal or mildly increased ventricular wall thickness.
• Most restrictive cardiomyopathies are idiopathic (also called primary restrictive cardiomyopathy), and the most common identifiable causes include cardiac amyloidosis , cardiac sarcoidosis, and hemosiderosis.

Evaluation

• Suspect restrictive cardiomyopathy (RCM) in patients that exhibit signs and symptoms of advanced heart failure but with typically normal left ventricular systolic function.
• Suspect restrictive physiology (secondary form) in patients with a history of radiation treatment, chemotherapy, or any other associated systemic disorders.
• Perform echocardiography to assess cardiac function where findings consistent with RCM include:
  • diastolic dysfunction
  • normal or reduced ventricular diastolic volume
  • normal or mildly increased wall thickness
  • preserved systolic function
  • atrial enlargement
• Consider a careful hemodynamic assessment, including right heart catheterization, if it is necessary to distinguish RCM from constrictive pericarditis.
• A cardiac biopsy is required to make a definitive diagnosis of cardiac amyloidosis, if suspected.
• Consider genetic testing and family screening in patients with idiopathic restrictive cardiomyopathy, particularly if there is a family history of heart failure or other forms of cardiomyopathy.
• Consider additional testing which may include electrocardiography, cardiac catheterization, additional imaging (chest x-ray, computed tomography, and magnetic resonance imaging), and serologic studies for systemic diseases.

Management

• Consider the administration of diuretics and/or aldosterone antagonists for all symptomatic patients with restrictive cardiomyopathy (RCM).
• Consider a permanent pacemaker for RCM complicated by atrioventricular block (AV) block.
• Consider the maintenance of sinus rhythm and atrial fibrillation control as precipitated by diastolic dysfunction.
• For patients with RCM caused by immunoglobulin light chain (AL) amyloidosis consider additional treatment with 1 or more of the following:
  • corticosteroids
  • melphalan
  • autologous stem cell transplantation
• For RCM caused by hemochromatosis, treatment may include iron depletion therapy and repeated phlebotomy.
• Offer cardiac transplantation in children with RCM and constrictive physiology and in adults with heart failure (Strong recommendation).
• Consider an implantable cardioverter-defibrillator in patients with or at risk for clinically significant arrhythmia even if left ventricular ejection fraction is > 35%, particularly in patients with a secondary cause of RCM or with hypertrophic cardiomyopathy (Weak recommendation).
• Offer genetic and family counseling to all patients and families with cardiomyopathy (Strong recommendation).
• For treatment related to other underlying causes see Immunoglobulin Light Chain (AL) Amyloidosis, Systemic sclerosis, Cardiac sarcoidosis, and Endocardial fibroelastosis.