Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis
EE Brown, YZJ Lee, MK Halushka, C Steenbergen… - Amyloid, 2017 - Taylor & Francis
Amyloidosis is a group of conditions characterized by the accumulation of amyloid deposits
in various tissues. Among these disorders, ATTR amyloidosis occurs either with or without a …
in various tissues. Among these disorders, ATTR amyloidosis occurs either with or without a …
Characteristics and natural history of early-stage cardiac transthyretin amyloidosis
Aims Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly diagnosed at an
early stage of the disease natural history, defined as National Amyloidosis Centre (NAC) …
early stage of the disease natural history, defined as National Amyloidosis Centre (NAC) …
High prevalence of ATTR amyloidosis in endomyocardial biopsy-proven cardiac amyloidosis patients
M Nakagawa, Y Sekijima, K Tojo, SI Ikeda - Amyloid, 2013 - Taylor & Francis
Background: Cardiac amyloidosis had been considered to be an incurable disease;
however, new disease-modifying therapeutic approaches have succeeded in ameliorating …
however, new disease-modifying therapeutic approaches have succeeded in ameliorating …
First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant
CS Lyng, E Gude, A Hodt… - Scandinavian …, 2023 - Taylor & Francis
An earlier healthy 64-year-old man with previous surgery for bilateral carpal tunnel
syndrome (CTS) in his 50s, presented with dyspnoea on exertion. Cardiac amyloidosis was …
syndrome (CTS) in his 50s, presented with dyspnoea on exertion. Cardiac amyloidosis was …
Analysis of the TTR gene in the investigation of amyloidosis: A 25‐year single UK center experience
D Rowczenio, CC Quarta, M Fontana… - Human …, 2019 - Wiley Online Library
Transthyretin amyloidosis (ATTR) is caused by deposition of either wild‐type (ATTRwt) or
variant (ATTRm) transthyretin. ATTRwt presents with restrictive cardiomyopathy, while …
variant (ATTRm) transthyretin. ATTRwt presents with restrictive cardiomyopathy, while …
Impact of genetic testing in transthyretin (ATTR) cardiac amyloidosis
DM Gopal, FL Ruberg, OK Siddiqi - Current Heart Failure Reports, 2019 - Springer
Abstract Purpose of Review The review's main focus centers on the genetics of hereditary
cardiac amyloidosis, highlighting the opportunities and challenges posed by the widespread …
cardiac amyloidosis, highlighting the opportunities and challenges posed by the widespread …
Cardiac transthyretin amyloidosis
Cardiac amyloidosis of transthyretin fibril protein (ATTR) type is an infiltrative
cardiomyopathy characterised by ventricular wall thickening and diastolic heart failure …
cardiomyopathy characterised by ventricular wall thickening and diastolic heart failure …
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?
Transthyretin-related hereditary amyloidosis (ATTR) is genotypically/phenotypically
heterogeneous. We investigated myocardial involvement in ATTR in a cohort of patients with …
heterogeneous. We investigated myocardial involvement in ATTR in a cohort of patients with …
Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS)
Aims Transthyretin amyloidosis (ATTR amyloidosis) is a heterogeneous disorder with
cardiac, neurologic, and mixed phenotypes. We describe the phenotypic and genotypic …
cardiac, neurologic, and mixed phenotypes. We describe the phenotypic and genotypic …
DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis
Background Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a
multisystem disease that presents with polyneuropathy and/or cardiomyopathy. Methods …
multisystem disease that presents with polyneuropathy and/or cardiomyopathy. Methods …