AIMS: Increased @entity1002 ( @entity1002 ) is a common finding in cardiology. It is not known how often hereditary transthyretin-related @entity296 ( @entity52434 - @entity7366 ) is responsible for @entity1002 . Several therapeutic modalities for @entity52434 - @entity7366 are currently in clinical trials; thus, it is important to establish the prevalence of @entity20117 mutations ( @entity52434 ) and the clinical characteristics of the @entity1 with @entity52434 - @entity7366 . METHODS AND RESULTS: In a prospective multicentre, cross-sectional study, the @entity20117 gene was sequenced in 298 consecutive @entity1 diagnosed with increased @entity1002 in primary cardiology clinics in France. Among the included @entity1 , median (25-75th percentiles) age was 62 [50;74]; 74% were @entity1 ; 23% were of African origin; and 36% were in NYHA Class III-IV. Median @entity1002 was 18 (16-21) mm. Seventeen (5.7%; 95% confidence interval [CI]: [3.4;9.0]) @entity1 had @entity52434 of whom 15 (5.0%; 95% CI [2.9;8.2]) had @entity52434 - @entity7366 . The most frequent mutations were @entity68783 (n = 8), @entity57721 (n = 2), and @entity68784 (n = 2). All @entity52434 - @entity7366 @entity1 were older than 63 years with a median age of 74 [69;79]. Of the 15 @entity1 with @entity52434 - @entity7366 , 8 were of African descent while 7 were of European descent. In the African descendants, @entity52434 - @entity7366 median age was 74 [72;79] vs. 55 [46;65] years in non- @entity52434 - @entity7366 (P < 0.001). In an adjusted multivariate model, African origin, @entity16 , @entity923 , electrocardiogram (ECG) low voltage, and late @entity2287 enhancement (LGE) at cardiac-magnetic resonance imaging were all independently associated with @entity52434 - @entity7366 . CONCLUSION: Five per cent of @entity1 diagnosed with @entity1121 have @entity52434 - @entity7366 . Mutated transthyretin genetic screening is warranted in elderly subjects with increased @entity1002 , particularly, those of African descent with @entity16 , @entity923 , ECG low voltage, or LGE.

Prevalence and clinical phenotype of XXXX in @entity1 with increased @entity1002 .

@entity1 :: ('9606', 'Species') :: ['patients', 'men'] @entity296 :: ('MESH:D009202', 'Disease') :: ['familial amyloid cardiomyopathy'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neuropathy'] @entity68783 :: ('p|SUB|V|142|I', 'ProteinMutation') :: ['V142I'] @entity57721 :: ('p|SUB|V|50|M', 'ProteinMutation') :: ['V50M'] @entity68784 :: ('p|SUB|I|127|V', 'ProteinMutation') :: ['I127V'] @entity2287 :: ('MESH:D005682', 'Chemical') :: ['gadolinium'] @entity7366 :: ('2176', 'Gene') :: ['FAC'] @entity1121 :: ('MESH:D002312', 'Disease') :: ['hypertrophic cardiomyopathy'] @entity923 :: ('MESH:D002349', 'Disease') :: ['carpal tunnel syndrome'] @entity20117 :: ('7276', 'Gene') :: ['TTR'] @entity52434 :: ('22139(Tax:10090)', 'Gene') :: ['mTTR'] @entity1002 :: ('MESH:D018487', 'Disease') :: ['LVWT', 'left ventricular wall thickness']
@entity296 :: (MESH:D009202,Disease) :: ['hereditary transthyretin amyloid cardiomyopathy']
