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 …

Characteristics and natural history of early-stage cardiac transthyretin amyloidosis

S Law, M Bezard, A Petrie, L Chacko… - European heart …, 2022 - academic.oup.com
Aims Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly diagnosed at an
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 …

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 …

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 …

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 transthyretin amyloidosis

JN Dungu, LJ Anderson, CJ Whelan, PN Hawkins - Heart, 2012 - heart.bmj.com
Cardiac amyloidosis of transthyretin fibril protein (ATTR) type is an infiltrative
cardiomyopathy characterised by ventricular wall thickening and diastolic heart failure …

Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?

C Rapezzi, E Perugini, F Salvi, F Grigioni, L Riva… - Amyloid, 2006 - Taylor & Francis
Transthyretin-related hereditary amyloidosis (ATTR) is genotypically/phenotypically
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)

T Damy, AV Kristen, OB Suhr, MS Maurer… - European heart …, 2022 - academic.oup.com
Aims Transthyretin amyloidosis (ATTR amyloidosis) is a heterogeneous disorder with
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

O Akinboboye, K Shah, AL Warner, T Damy, HA Taylor… - Amyloid, 2020 - Taylor & Francis
Background Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a
multisystem disease that presents with polyneuropathy and/or cardiomyopathy. Methods …