Table 1.
Characteristics of patients with amyloid cardiomyopathy due to wild type TTR and the two most diffuse variant TTR forms.
| Wild-Type | Val30Met | Val122Ile | |
|---|---|---|---|
| Median age at diagnosis | ≥ 75 years | Early-onset ~ 30 years Late-onset ≥ 50 years (variable) |
~ 70 years |
| Mode of transmission | – | Autosomal dominant | Autosomal dominant |
| Genetic abnormality | – | Single nucleotide mutation | Single nucleotide mutation |
| Geographical distribution | Worldwide | Diffused worldwide, but with endemic areas including Portugal, Japan, Sweden and Cyprus | United States, United Kingdom, Western Africa |
| Clinical phenotype [15] | Cardiac 79%, NNNeurological 2.4% Mixed 18% | Early-onset: Cardiac 3%, Neurological 80%, Mixed 17% Late-onset: Cardiac 9%, Neurological 64%, Mixed 27% |
Cardiac: predominant Neurological and Mixed: Unknown |
| History of CTS,% | 25% - 33% | 14% - 30% | ~ 30% |
| Time from CTS and AC diagnosis | 15.5 years | 13 years | Unknown |
| AF,% | 65 - 70% | 30 | ~ 50% |
| Low QRS voltages,% | 30 - 45% | Early-onset: 7.5% [20] Late-onset: 4% [20] |
~ 45% |
| Median LV Wall Thickness, mm | 18 ± 3 | 17 ± 4 | 16 +−34 mm |
| Restrictive filling pattern,% | 40% | < 20 - 25% | ~ 55% |
| LVEF,% | 51 ± 12 | Early- and late-onset: 70 ± 7 | 40 ± 14% |
| LA diameter, mm | 50 ± 10 | 43 ± 6 | 46 ± 6 mm |
| AV Valve Thickening,% | 50% | Early- and late-onset: 10% | ~40% |
| Pericardial effusion,% | ~40% | ~55% | – |
| Median Survival | ~3.5 - 6 years | 12 years (Early-onset) [20] 7 years (Late-onset) [20] |
~2.5 years (without therapy) |
Legend: AC, Amyloid Cardiomyopathy; AF, Atrial Fibrillation; AV, Atrio-Ventricular; CTS, Carpal Tunnel Syndrome; LA, Left Atrium; LVEF, Left Ventricular Ejection Fraction; TTR, Transthyretin. Epidemiologic data, including the prevalence of clinical and echocardiographic characteristics, derive from those available in literature [11,15,16,19,20,24,41].