A Case of Familial Cardiac Amyloidosis.
10.4070/kcj.2004.34.5.520
- Author:
Youn Jeong KIM
1
;
Son Ook CHOI
;
Mi Kyung KIM
;
Chul Hyun LIM
;
Ju Sang KIM
;
Woo Baek CHUNG
;
Jae Won SHIN
;
Chul Soo PARK
;
Yong Seok OH
;
Ho Joong YOUN
;
Sung Joo KIM
;
Wook Sung CHUNG
;
Soon Jo HONG
Author Information
1. Department of Internal Medicine, College of Medicine, Research Institute of Molecular Genetics, Korea.
- Publication Type:Case Report
- Keywords:
Familial amyloidosis;
Heart
- MeSH:
Amyloid;
Amyloidosis*;
Amyloidosis, Familial;
Apolipoprotein A-I;
Biopsy;
Congo Red;
Dyspnea;
Echocardiography;
Fibrinogen;
Heart;
Humans;
Muramidase;
Prealbumin;
Siblings
- From:Korean Circulation Journal
2004;34(5):520-526
- CountryRepublic of Korea
- Language:Korean
-
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.
