Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center.

AIMS

In the USA, transthyretin cardiac amyloidosis usually results from 'wild-type' transthyretin (senile cardiac amyloidosis [SCA]) or the V122I variant.

PATIENTS & METHODS: We compared presentations and outcomes among SCA and V122I patients referred to the Center for Advanced Cardiac Care at Columbia University Medical Center (NY, USA) between 2001 and 2012.

RESULTS

V122I patients were younger (mean: 71 years, standard deviation [SD]: 7) than SCA patients (mean: 77, SD: 6; p = 0.0002) and 96% were black compared with 3% of SCA patients (p < 0.0001). Average ejection fraction was lower among V122I patients (mean: 25% [SD: 12] vs mean: 47% [SD: 15]; p = 0.0001), as was mean cardiac index. Median time to death or orthotopic heart transplant was 36.4 months for V122I patients and 66.5 for SCA patients (p = 0.09).

CONCLUSION

In this study of patients with transthyretin cardiac amyloidosis, V122I patients presented to a tertiary academic medical center at a younger age than SCA patients but had higher levels of cardiac dysfunction, despite genetic screening availability. There was a trend toward shorter time to orthotopic heart transplant or death among V122I patients. Whether this is a result of a different biologic progression or late diagnosis requires further study.