|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Ten of 92 TTR V122I carriers with heart failure (11%) were diagnosed as having hATTR-CM; the median time from onset of symptoms to clinical diagnosis was 3 years.
|
31821430 |
2019 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent.
|
28102864 |
2017 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Afro-Caribbean Heart Failure in the United Kingdom: Cause, Outcomes, and ATTR V122I Cardiac Amyloidosis.
|
27618855 |
2016 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The focus was on the phenotypic expression and survival in the majority of U.S. subjects with valine-to-isoleucine substitution at position 122 (Val122Ile) (n = 91) and wild-type ATTR (n = 189).
|
27386769 |
2016 |
|
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 |
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
|
24184229 |
2014 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Till now, very few Caucasian cases of p.Val122Ile mutated TTR-related cardiac amyloidosis have been reported.
|
22449240 |
2012 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The widely held belief that cardiac amyloidosis is associated with low-voltage complexes is likely to contribute to underdiagnosis of ATTR V122I.
|
22795285 |
2012 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).
|
22877808 |
2012 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pressure-volume relationships in patients with transthyretin (ATTR) cardiac amyloidosis secondary to V122I mutations and wild-type transthyretin: Transthyretin Cardiac Amyloid Study (TRACS).
|
21191093 |
2011 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The observations suggest that TTR V122I represents a substantial risk for clinically significant cardiac amyloidosis in elderly African American men, behaving as an age-dependent autosomal dominant disease-associated allele.
|
21600538 |
2011 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The following were performed: genotyping of banked DNA for TTR V122I allele status and review of cardiovascular and demographic parameters in CHS and ARIC databases, with statistical comparisons of the frequency of congestive heart failure, survival, and occurrence of features of cardiac amyloidosis in carriers of the amyloidogenic allele and controls.
|
20435197 |
2010 |
|
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 |
|
Senile cardiac amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
After the age of 60, isolated cardiac amyloidosis is four times more common among blacks than whites in the United States; 3.9 percent of blacks are heterozygous for an amyloidogenic allele of the normal serum carrier protein transthyretin in which isoleucine is substituted for valine at position 122 (Ile 122).
|
9017939 |
1997 |