[The clinical features and outcomes of immunoglobulin light-chain amyloidosis with heart involvement].

Department of Cardiology, Peking University First Hospital, Beijing 100034, China.
Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases] 05/2007; 35(4):340-3.
Source: PubMed


To analyze the clinical features and outcomes of patients with immunoglobulin light-chain amyloidosis (AL) who had heart involvement.
Clinical features and outcomes of AL amyloidosis patients with heart involvement in the past 7 years in our hospital were retrospectively analyzed.
Cardiac involvement was seen in 36 out of the 60 AL patients (60%). The clinical manifestations of cardiac amyloidosis included heart failure (50%), low QRS voltage (47.2%) and pseudomyocardial infarction (33.3%) in electrocardiography, as well as thickening of ventricular wall (63.9%), echo of granular sparkling texture (11.1%), atria dilation (33.3%) and diastolic dysfunction (30.6%) in echocardiography. The prognosis was poor, with a median survival time of 13.9 months.
Patients of AL amyloidosis with cardiac involvement are not rare. Thickening of ventricular wall and diastolic dysfunction are the most common characteristics. Special attention should be paid to this disease.

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    ABSTRACT: Several proteins share the property of conforming as antiparallel � -sheets, and forming insoluble amyloid fibrils that deposit in the interstitium of organs/tissues and cause systemic amyloidosis. Car- diac involvement is frequent and constitutes a major predictor of poor outcome. Its typical phenotype is that of restrictive cardiomyopathy. The biochemical classification of the amyloidogenic proteins provides the bases for innovative therapeutic approaches. Primary systemic amyloidosis (AL) is a protein conformation disorder in which monoclonal im- munoglobulin light chains (� or � ) produced by clonal plasma cells, are deposited as amyloid in kid- neys, heart, liver, and other organs. The recent evidence that chemotherapy reduces or even eradi- cates the amyloidogenic clone with consequent functional improvement of the affected organs raises new hopes for a treatment, whose key of success is early diagnosis. Heart transplantation can be pro- posed in patients < 60 years of age in association with autologous stem cell transplantation. In serum amyloid A amyloidosis, fibrils are constituted of the acute phase serum amyloid A pro- tein that is produced in excess in chronic inflammatory diseases such as familial mediterranean fever, autoimmune disorders and chronic infections. The strategy is to treat the underlying inflammatory disease, but new molecules inhibiting amyloid formation and promoting amyloid resorption are fac- ing the clinical scenario and trials are in progress. In transthyretin (TTR) amyloidosis, the non-senile forms are autosomal dominant diseases caused by defective proteins synthesized by mutated TTR genes (more than 70 known mutations with dif- ferent genotype-phenotype correlations). The treatment is based on transplantation of the TTR-pro- ducing liver; exceptionally, liver plus heart or kidney are transplanted. Apolipoprotein A1 amyloidosis is an inherited autosomal dominant disease that benefits from the transplantation of the most impaired organs, usually heart, liver or kidney, either single or com- bined. The diagnosis of apolipoprotein A1 and TTR amyloidosis relies on positive family history, im- munocharacterization of the amyloid fibrils in a tissue biopsy, gene defect detection and absence of light chains in serum and urines. Vice versa, non-familial primary amyloidoses are diagnosed when � orlight chains are identified with immunofixation in serum or urines. Tissue studies provide the gold standard for the diagnosis and immunocharacterization of amyloid protein. Heart involvement is diagnosed with a multiparametric approach that includes clinical, electrocardiographic and echocardiographic evaluation. The fine-needle biopsy of the periumbilical fat is the preferral proce- dure for amyloid detection and immunocharacterization of amyloid protein. This approach excludes, with a few exceptions, the need of endomyocardial biopsy.
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