Korean Circ J.
2004 May;34(5):520-526. 10.4070/kcj.2004.34.5.520.
A Case of Familial Cardiac Amyloidosis
- Affiliations
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- 1Department of Internal Medicine, College of Medicine, Research Institute of Molecular Genetics, Korea.
- 2The Catholic Research Institutes of Medical Science, the Catholic University of Korea, Seoul, Korea.
- KMID: 1769253
- DOI: http://doi.org/10.4070/kcj.2004.34.5.520
Abstract
- Amyloidosis is defined by the extracellular deposition of fibrillar proteinacious material that binds Congo red dye. Amyloid fibrils can be deposited locally, but can involve virtually every organ system of the body. Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen Aalpha-chain, lysozyme or apolipoprotein A-I, is-extremely rare. A case of familial amyloidosis, involving the heart, was identified, where the patient complained exertional dyspnea. The echocardiographic findings were the markedly thickened the interventricular septum and right ventricular wall, as well as a granular sparkling appearance in the interventricular septum. On admission, the patient, and his younger brother, underwent endomyocardial biopsies, and the results of the Congo red staining and EM were consistent with amyloidosis. The patient was managed conservatively, and discharged without complication.
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