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Updated: Aug 16, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Cardiac amyloidosis revealing multiple myeloma]
Hichem Denguir1, Khaldoun Ben-Hamda, Mostari Gharbi
1Service de cardiologie du CHU de Monastir.
Introduction:
Amyloidosis is a rare disease characterized by an extracellular accumulation of a protein polysaccharid complex (Amyloid). Cardiac involvement is considered as a major prognostic factor.
Observations:
We report the case of two women, hospitalized for heart failure. The diagnosis of cardiac amyloidosis was suggested by echocardiography: Left ventricular concentric hypertrophy and typical amyeloid infiltration with hyperechoic, shiny and granite-like aspect of the interventricular septum. The histological confirmation was obtained by gastric biopsy in the first case and biopsy of the salivary glands in the second revealing an amyloidosis AL. This cardiac amyloidosis was secondary to multiple myeloma: monoclonal Gammopathy with immunoglobulin Lambda in the first and Kappa in the second, and the presence of a plasmocyte infiltration in the sternal puncture.
Conclusion:
Amyloidosis is a rare pathology, the cardiac involvement is frequent in the type AL and can occur with or without clinical manifestations. Echocardiography should be systematic in patients with confirmed amyloidosis.
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