1. Cardiac amyloidosis - an easy, but usually delayed diagnosis.
- Author
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Siliste, R., Calangea, I., Voinea, F., Savulescu-Fiedler, I., Gherghiceanu, M., and Isacoff, D.
- Subjects
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AMYLOIDOSIS , *LYMPHOPROLIFERATIVE disorders , *IMMUNOGLOBULINS , *NEPHROTIC syndrome , *DYSPNEA , *CARDIOMYOPATHIES - Abstract
Amyloidosis is a group of rare diseases in which a specific protein is deposited as aggregated interstitial fibrils that can compromise organ function and lead to death. More than 20 proteins form clinically relevant amyloid deposit. Primary amyloidosis consists in deposition of immunoglobulin light chains (AL). Secondary amyloidosis is due to excess of nonimunoglobulinic proteic material deposits (AA). The common clinical presentation form is the association between nephrotic syndrome, hepatomegaly, peripheral neuropathy, gastrointestinal tract involvement and heart failure. Cardiac involvement appears frequently in the end stage and it's very seldom as the only manifestation of the disease. The cardiac amyloidosis has a very poor prognosis. We present the case of a 54 year old patient admitted to our clinic for exertional dyspnoea, massive edemas and repetitive syncope. Although the patient was extensively investigated (including diagnostic laparoscopy), the key of diagnosis was the association between nephrotic syndrome, the ECG aspect and echocardiographical changes suggestive of an infiltrative cardiomyopathy, besides neuropathy and gastrointestinal tract disorders. The purpose of our presentation is to stress the importance of the correlation between ECG changes and the ultrasonography in order to diagnose an infiltrative cardiopathy. These findings, besides the extracardiac biopsies, are an important tool in the diagnosis of the cardiac amyloidosis. The biopsy of subcutaneous fatty tissue is a new, highly sensitive method with sensitivity 73% and specificity 90%, so that it can be used as a screening test in patients without any clinical symptom or organ dysfunction. Although the classical histological diagnosis is made by Congo red stains, the sensitivity of the diagnosis is higher by using negatively stained electron microscopy. [ABSTRACT FROM AUTHOR]
- Published
- 2009