Restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease characterized by impaired ventricular filling due to increased stiffness (reduced compliance) of the heart walls, while the thickness of the ventricular walls and systolic function may remain relatively normal, at least in early stages. The rigid ventricles cannot relax and fill properly during diastole, leading to elevated filling pressures and subsequent enlargement of the atria. This results in symptoms of heart failure, including shortness of breath (dyspnea), exercise intolerance, fatigue, peripheral edema, and fluid retention (ascites and pleural effusions). Patients may also experience palpitations due to atrial arrhythmias, thromboembolic events, and syncope. In children, RCM can present with failure to thrive and pulmonary hypertension. Restrictive cardiomyopathy can be idiopathic (primary) or secondary to a variety of conditions. Primary forms may be familial, often associated with mutations in genes encoding sarcomeric proteins such as TNNI3 (cardiac troponin I), MYH7 (beta-myosin heavy chain), TNNT2 (cardiac troponin T), and others, as well as desmin (DES) mutations. Secondary causes include infiltrative diseases (amyloidosis, sarcoidosis), storage diseases (hemochromatosis, Fabry disease, glycogen storage diseases), endomyocardial fibrosis, radiation therapy, and certain medications. RCM is the least common of the major cardiomyopathy subtypes. There is currently no cure for restrictive cardiomyopathy. Treatment is largely supportive and aimed at managing heart failure symptoms with diuretics, controlling arrhythmias, preventing thromboembolic complications with anticoagulation, and addressing any underlying cause when possible. Heart transplantation remains the definitive treatment for patients with refractory symptoms and progressive disease, particularly in pediatric cases where prognosis tends to be poorer. Regular cardiac monitoring, including echocardiography and assessment for pulmonary hypertension, is essential for disease management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Restrictive cardiomyopathy