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Updated: Apr 23, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Clinical characteristics of 42 patients with cardiac amyloidosis]
Yuqing Huang1, Jiaxin Zhan1, Xuebiao Wei1
1Department of Cardiology, Guangdong General Hospital, Guangdong Provincial Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
Objective:
To characterize the clinical features of patients with cardiac amyloidosis (CA).
Methods:
Totally 42 patients with CA admitted to Guangdong General Hospital since 2008 were included and retrospectively analyzed in the present study. CA was confirmed by abdomen and endocardium biopsy examination. Clinical manifestations, electrocardiogram and echocardiography were collected for the evaluation.
Results:
Several clinic features are common in CA. In the present study, 37 cases (88.1%) presented with chest tightness, dyspnea, 20 cases (47.6%) with chest pain, 27 cases (64.3%) with right heart failure, 27 cases (64.3%) with fatigue, and 30 cases (71.4%) with renal insufficiency and proteinuria. Electrocardiogram (ECG) showed that 32 of the patients (76.2%) were with low voltage in limb leads, 29 cases (69%) of them were with poor R wave progression in precordial leads, 17 cases (40.5%) with ST-T change, 28 cases (66.7%) with pseudo-necrotic Q wave and 36 cases (85.7%) with various kinds of arrhythmia. Echocardiography indicated that all of the subjects (100%) were with different degrees of left ventricular posterior wall or ventricular septal thickness, and left atrial hypertrophy with different degree of myocardial grain appearance or ground-glass opacity. Thirty-six cases (85.7%) were with pericardial effusion, and 27 cases (64.3%) were with abnormal left ventricular eject function.
Conclusion:
For those who were with unexplained clinical cardiac insufficiency, renal insufficiency, myocardial hypertrophy, but normal of ventricular size in echocardiography and low voltage on ECG limb leads, a tissue biopsy from abdomen, labial glands or endocardium should be considered in the diagnosis of CA.
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Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid Fibrils