Table 4.
ATTR amyloidosis phenotype distribution by genotype: symptomatic patients (N = 240)
| Genotype | Overall, N | Cardiaca | Neurologicb | Mixedc | |||
|---|---|---|---|---|---|---|---|
| n | % | n | % | n | % | ||
| Val30Met (p.Val50Met) | 146 | 16 | 11.0 | 99 | 67.8 | 31 | 21.2 |
| Wild-type | 57 | 13 | 22.8 | 7 | 12.3 | 37 | 64.9 |
| Val122Ile (p.Val142Ile) | 10 | 2 | 20.0 | 4 | 40.0 | 4 | 40.0 |
| Glu89Lys (p.Glu109Lys) | 9 | 0 | 0.0 | 4 | 44.4 | 5 | 55.6 |
| delVal122 (p.delVal142) | 7 | 1 | 14.3 | 3 | 42.9 | 3 | 42.9 |
| Ala45Thr (p.Ala65Thr) | 2 | 0 | 0.0 | 0 | 0.0 | 2 | 100.0 |
| Ile107Met (p.Ile127Met) | 2 | 0 | 0.0 | 2 | 100.0 | 0 | 0.0 |
| Asp18Asn (p.Asp38Asn) | 1 | 0 | 0.0 | 0 | 0.0 | 1 | 100.0 |
| Asp38Ala (p.Asp58Ala) | 1 | 0 | 0.0 | 0 | 0.0 | 1 | 100.0 |
| Glu89Gln (p.Glu109Gln) | 1 | 1 | 100.0 | 0 | 0.0 | 0 | 0.0 |
| Glu89Gly (p.Glu109Gly) | 1 | 0 | 0.0 | 1 | 100.0 | 0 | 0.0 |
| Ser77Tyr (p.Ser97Tyr) | 1 | 0 | 0.0 | 0 | 0.0 | 1 | 100.0 |
| Thr60Ala (p.Thr80Ala) | 1 | 0 | 0.0 | 1 | 100.0 | 0 | 0.0 |
| Val71Ala (p.Val91Ala) | 1 | 0 | 0.0 | 0 | 0.0 | 1 | 100.0 |
Data cutoff: January 6, 2020
ATTR amyloidosis transthyretin amyloidosis, ECG electrocardiogram, GI gastrointestinal
aPatients with the cardiac phenotype are those (1) with abnormal ECG due to rhythm disturbance, heart failure, or dyspnea, and (2) who do not have more than mild neurologic or GI symptoms (excluding erectile dysfunction, constipation, and carpal tunnel syndrome)
bPatients with the neurologic phenotype are those (1) with walking disability of any severity, other neurologic symptoms of any severity, or GI symptoms (early satiety, nausea, vomiting, unintentional weight loss, diarrhea, constipation, or fecal incontinence) of any severity, and (2) who do not have abnormal ECG due to rhythm disturbance, heart failure, or dyspnea
cPatients with the mixed phenotype are all remaining symptomatic patients who do not meet the criteria for either cardiac or neurologic phenotype