Endocardial fibroelastosis

Endocardial fibroelastosis (EFE) is a rare cardiac disorder characterized by diffuse thickening of the endocardium (the inner lining of the heart chambers) due to proliferation of collagen and elastic tissue. The condition predominantly affects the left ventricle and can also involve the heart valves, leading to restrictive or dilated cardiomyopathy. EFE primarily affects infants and young children, though it can occasionally be detected prenatally. The disease may occur as a primary (isolated) condition or secondary to other cardiac malformations such as aortic stenosis, coarctation of the aorta, or hypoplastic left heart syndrome. Primary EFE has been associated with viral infections (particularly mumps and Coxsackie B viruses) during fetal development, as well as genetic factors including both autosomal recessive and X-linked recessive inheritance patterns in familial cases. Key clinical features include congestive heart failure, respiratory distress, poor feeding, failure to thrive, tachycardia, and cardiomegaly. The thickened endocardium impairs the heart's ability to contract and relax properly, leading to progressive cardiac dysfunction. Two forms are recognized: a more common dilated type with an enlarged left ventricle and poor systolic function, and a less common contracted type with a small, stiff left ventricle. Diagnosis is typically made through echocardiography, which reveals the characteristic bright, thickened endocardium, and can be confirmed by endomyocardial biopsy or at autopsy. Treatment is primarily supportive and focuses on managing heart failure with medications such as digoxin, diuretics, and afterload-reducing agents. Anticoagulation may be necessary to prevent thromboembolic complications. In severe or refractory cases, cardiac transplantation may be considered. The prognosis is variable; some patients respond well to medical management and may show improvement over time, while others progress to end-stage heart failure. The incidence of primary EFE has declined significantly since the introduction of widespread mumps vaccination programs.

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