|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Demographic and clinical data at the time of enrolment for Brazilian subjects with symptomatic V30M ATTRv-PN were extracted from the ongoing, multinational, longitudinal, observational Transthyretin Amyloidosis Outcomes Survey (THAOS; cut-off date: January 30, 2017).
|
31163298 |
2019 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families.
|
30811423 |
2019 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our case suggests that serial native T1 and extracellular volume may be novel non-invasive imaging methods to monitor the treatment response to TTR stabilizers in cardiac amyloidosis and also that tafamidis may be effective in suppressing cardiac progression in TTR amyloid cardiomyopathy with Val30Met mutation.
|
30478886 |
2019 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Patients were divided into three groups: 1- Val30Met with cardiac amyloidosis; 2-Val30Met with extracardiac amyloidosis; 3 - Val30Met without evidence of disease.
|
27992035 |
2017 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation.
|
26984605 |
2016 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The overall 5-year survival rate is approximately 100% for V30M patients and 59% for non-ATTR V30M patients.
|
25482846 |
2015 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. Longer disease duration after LT can provide the necessary time for transthyretin amyloidosis to progress until it becomes clinically relevant.
|
25091367 |
2015 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
|
25743445 |
2015 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis.
|
24101373 |
2013 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles.
|
23185504 |
2012 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The V30M to wild type TTR ratio in plasma is the same for all ATTR patients studied, showing no variation with disease clinical progression.
|
22080762 |
2011 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).
|
20937937 |
2011 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three of the 46 cases with HCM carried the Val30Met mutation, and were considered likely to have cardiac amyloidosis, like the index case.
|
16115295 |
2005 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report.
|
15523922 |
2004 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The method was successfully tested using serum from ATTR patients with known variants (Val30-->Met and Val122-->Ile).
|
9949732 |
1999 |