OBSOLETE: Familial restrictive cardiomyopathy type 1

Familial restrictive cardiomyopathy type 1 (RCM1) is an obsolete disease entry that was previously used to describe a hereditary form of restrictive cardiomyopathy, a condition in which the walls of the heart's ventricles become stiff and rigid, impairing their ability to fill with blood between heartbeats. This leads to diastolic dysfunction while systolic function (the heart's ability to contract and pump blood) may initially remain relatively preserved. The condition primarily affects the cardiovascular system, and patients may experience symptoms of heart failure including shortness of breath, fatigue, exercise intolerance, peripheral edema, and fluid retention. Atrial enlargement is a common finding, and patients may develop atrial fibrillation, thromboembolic events, and pulmonary hypertension. This Orphanet entry (ORPHA:99985) has been marked as obsolete, meaning the classification has been retired or merged into a broader or updated disease category. Familial restrictive cardiomyopathy is now generally classified under the broader category of restrictive cardiomyopathy, with specific genetic subtypes identified based on the causative gene. Mutations in genes encoding sarcomeric proteins, particularly TNNI3 (cardiac troponin I), have been associated with familial forms of restrictive cardiomyopathy. Other genes implicated include MYH7, TNNT2, and DES. Management of restrictive cardiomyopathy is largely supportive and includes diuretics for fluid overload, anticoagulation to prevent thromboembolic complications, and treatment of arrhythmias. Heart transplantation may be considered in severe or refractory cases, as no disease-specific therapy currently exists.

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