Amyloidosis - a rare cause of refractory heart failure in a young female

Cardiac amyloidosis may occur in any type of systemic amyloidosis. The clinical picture is often characterized by restrictive cardiomyopathy. We report the case of a 41-year-old female patient admitted to the Department of Cardiology with clinical signs of right heart failure: congested jugular veins, hepatomegaly, peripheral edema, ascites associated with atrial fibrillation, low values of arterial blood pressure and oliguria. Echocardiographic findings were helpful for the diagnosis of cardiac amyloidosis: enlarged atrial cavities, normal size ventricles, thickened ventricular septum and posterior left ventricle wall with normal left ventricular ejection fraction, mitral and tricuspid regurgitation. Two-dimensional echocardiography revealed additional features: thickened papillary muscles and a specific "granular sparkling" appearance of the thickened cardiac walls - probably due to the amyloid deposit. Gingival biopsy showing amorphous eosinophilic material located in the vessel walls and the specific dichroism and "apple-green" birefringence under polarized light on Congo red stained slides completed the diagnosis of systemic amyloidosis. We recommend cardiologists to take into account a possible cardiac amyloidosis in a patient with unexplained refractory heart failure and a typical pattern of restrictive cardiomyopathy revealed by echocardiographic examination. We also emphasize the fact that the complete diagnosis cannot be set without a biopsy that should reveal the presence of amyloid. Although endomyocardial biopsy, completed with histochemical and immunohistochemical stains, is a valuable diagnostic method, in cases with advanced cardiac failure, the best site for this biopsy may be the gingiva.