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Table 2 Core features of the clinical and laboratory manifestations of patients with ATTR Ala97Ser mutation

From: Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese

  (n = number of patients, males: females) This study (n = 8, 5:3) Liu et al., 2008 (n = 5, 3:2) Chao et al., 2015 (n = 28, 25:3)
Core features 1. Late onset age (years, mean ± SD, median, range) 61.7 ± 5.5, 60, 55–69 50.4 ± 5.6,49, 46–60 59.9 ± 6.0,59, 48–71
2. Progressive polyneuropathya 7/7 (100.0%) 5/5 (100.0%) 28/28 (100.0%)
3. Progressive autonomic dysfunctionb 7/7 (100.0%) 5/5 (100.0%) 22/28 (78.6%)
4. Family members with similar symptoms or documented ATTR 6/8 (75.0%) 5/5 (100.0%) NA
Supportive laboratory findings 1. Progressive axonal predominant, length-dependent, sensorimotor polyneuropathy on electrophysiology 7/7 (100.0%) 5/5 (100.0%) 28/28 (100.0%)
2. Ventricular wall thickening in association with pericardial effusion on echocardiography 7/7 (100.0%) NA NA
3. LVH in association with low to normal QRS voltage on electrocardiography 7/7 (100.0%) NA NA
4. Granular sparkling appearance of the ventricular myocardium on echocardiography 4/7 (57.1%) NA NA
5. Hypertrophic cardiomyopathy in the absence of other causesc 7/7 (100.0%) 3/5 (60.0%) NA
6. Conduction abnormalities on ECG 5/7 (71.4%) 3/5 (60.0%) NA
7. Amyloid deposition on tissue biopsy 2/5 (40.0%) 3/5 (60.0%) > 1/3 (> 33.3%)
  1. aData are presented as ratio. The denominators differ according to the availability of the data. NA: not available
  2. bAutonomic dysfunction including gastrointestinal (constipation, diarrhea, or nausea/vomiting), orthostatic (hypotension, dizziness, syncope) and genitourinary symptoms (sexual dysfunction, urinary incontinence, urinary retention)
  3. cIncreased thickness of the ventricular wall, atrial septum, interventricular septum, or atrioventricular valve
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