Pathophysiology and treatment of cardiac amyloidosis

MA Gertz, A Dispenzieri, T Sher - Nature Reviews Cardiology, 2015 - nature.com
Amyloid cardiomyopathy should be suspected in any patient who presents with heart failure
and preserved ejection fraction. In patients with echocardiographic evidence of ventricular …

Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review

P Chandrashekar, L Alhuneafat… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: The p. Val142Ile variant, predominantly found among people of African
descent, is the most common cause of variant transthyretin amyloidosis and carriers …

Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy

T Coelho, M Inês, I Conceição, M Soares… - Neurology, 2018 - AAN Enterprises
Objective To assess the natural history and treatment effect on survival among patients with
transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) stage 1 Val30Met …

Cardiovascular burden of the V142I transthyretin variant

S Selvaraj, B Claggett, SH Shah, RJ Mentz, MG Khouri… - JAMA, 2024 - jamanetwork.com
Importance Individual cohort studies concur that the amyloidogenic V142I variant of the
transthyretin (TTR) gene, present in 3% to 4% of US Black individuals, increases heart …

Transthyretin cardiac amyloidosis in black Americans

KB Shah, AK Mankad, A Castano… - Circulation: Heart …, 2016 - Am Heart Assoc
Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that
mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. In the …

New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden

F Gorram, M Olsson, F Alarcon, G Nuel, I Anan… - Amyloid, 2021 - Taylor & Francis
Abstract Introduction Hereditary transthyretin (ATTRv) amyloidosis is of autosomal dominant
transmission, caused by a spectrum of mutations in the transthyretin (TTR) gene. The …

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data

C Lahuerta Pueyo, MÁ Aibar Arregui… - European Journal of …, 2019 - nature.com
Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by
extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can …

Design and rationale the SCAN‐MP (screening for cardiac amyloidosis with nuclear imaging in minority populations) study

FL Ruberg, WS Blaner, C Chiuzan… - Journal of the …, 2023 - Am Heart Assoc
Background Transthyretin amyloid cardiomyopathy (ATTR‐CM) is an important cause of
heart failure in older individuals. Misfolding and deposition of transthyretin or prealbumin …

The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa

DR Jacobson, AA Alexander, C Tagoe… - … Genetics & Genomic …, 2016 - Wiley Online Library
Abstract Background Transthyretin (TTR) pV 142I (rs76992529‐A) is one of the 113 variants
in the human TTR gene associated with systemic amyloidosis. It results from a G to A …

The genetics of cardiac amyloidosis

S Arno, J Cowger - Heart failure reviews, 2022 - Springer
Heritable cardiac amyloidosis (CA) is an underrecognized cause of morbidity and mortality
in the USA. It results from the accumulation of the misfolded protein transthyretin within the …