Familial restrictive cardiomyopathy

Familial restrictive cardiomyopathy (familial RCM) is a rare inherited form of heart muscle disease characterized by impaired filling of the heart ventricles due to increased stiffness (reduced compliance) of the ventricular walls, while the thickness of the heart walls and systolic (pumping) function may remain relatively normal, at least in early stages. The condition primarily affects the cardiovascular system, leading to elevated filling pressures, atrial enlargement, and eventually heart failure. Patients may also develop pulmonary hypertension and are at increased risk for thromboembolic events and arrhythmias, including atrial fibrillation. Key symptoms include progressive exercise intolerance, dyspnea (shortness of breath), fatigue, peripheral edema, and syncope (fainting). In children, the disease can present more aggressively and may progress rapidly to severe heart failure. Familial RCM has been associated with mutations in several genes encoding sarcomeric proteins, including TNNI3 (cardiac troponin I), TNNT2 (cardiac troponin T), MYH7 (beta-myosin heavy chain), ACTC1 (cardiac actin), and desmin (DES), among others. These mutations alter the structural or functional properties of the cardiac sarcomere, leading to increased myocardial stiffness. The disease is most commonly inherited in an autosomal dominant pattern, though genetic heterogeneity exists. There is currently no cure for familial restrictive cardiomyopathy. Treatment is largely supportive and aimed at managing symptoms of heart failure, controlling arrhythmias, and preventing thromboembolic complications with anticoagulation therapy. Diuretics may be used cautiously to manage fluid overload, though excessive preload reduction must be avoided. Heart transplantation remains the definitive treatment for patients with refractory heart failure and is often considered early in the disease course, particularly in pediatric patients who tend to have a poorer prognosis. Regular cardiac surveillance and genetic counseling are recommended for affected families.

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