Givens Raymond C, Russo Chris, Green Philip, Maurer Mathew S
Clinical Cardiovascular Research Laboratory for the Elderly, Center for Advanced Cardiac Care, Division of Cardiology, Columbia College of Physicians & Surgeons, 622 West 168th Street, PH 12-1291, NY, USA.
Aging health. 2013 Apr 1;9(2):229-235. doi: 10.2217/ahe.13.10.
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.
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).
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.
在美国，转甲状腺素蛋白心脏淀粉样变性通常由“野生型”转甲状腺素蛋白（老年心脏淀粉样变性[SCA]）或V122I变体引起。
我们比较了2001年至2012年间转诊至美国纽约哥伦比亚大学医学中心高级心脏护理中心的SCA患者和V122I患者的临床表现和预后。
V122I患者比SCA患者年轻（平均年龄：71岁，标准差[SD]：7）（平均年龄：77岁，SD：6；p = 0.0002），96%为黑人，而SCA患者为3%（p < 0.0001）。V122I患者的平均射血分数较低（平均：25%[SD：12] vs平均：47%[SD：15]；p = 0.0001），平均心脏指数也是如此。V122I患者至死亡或原位心脏移植的中位时间为36.4个月，SCA患者为66.5个月（p = 0.09）。
在这项转甲状腺素蛋白心脏淀粉样变性患者的研究中, V122I患者比SCA患者更年轻就就诊于三级学术医疗中心，但尽管有基因筛查，其心脏功能障碍水平更高。V122I患者接受原位心脏移植或死亡的时间有缩短趋势。这是不同生物学进展还是晚期诊断的结果需要进一步研究。
