Deep phenotyping of p.(V142I)-associated variant ATTR amyloid cardiomyopathy: distinct from wild-type ATTR amyloidosis?

Yousuf RazviAdam IoannouRishi K PatelLiza ChackoNina KariaMattia RiefoloAldostefano PorcariMuhammad Umaid RaufNeasa StarrSashiananthan GanesananthanIona BlakeneyNandita KazaStefano FilisettiRoos Eline BolhuisDorota RowczenioJanet GilbertsonDavid HuttShameem MahmoodHelen J LachmannAshutosh D WechalekarTushar KotechaDaniel S KnightJohn G CoghlanAviva PetrieCarol J WhelanLucia VenneriAna Martinez-NaharroPhillip HawkinsMarianna FontanaJulian D Gillmore

Published in: European journal of heart failure (2023)

p.(V142I)-ATTRv-CM has an aggressive phenotype characterised by myocyte loss and widespread myocardial infiltration which may account for frequent biventricular failure and poor prognosis in this ATTR-CM genotypic subgroup. This article is protected by copyright. All rights reserved.

Keyphrases

poor prognosis
wild type
long non coding rna
heart failure
high throughput
multiple myeloma
randomized controlled trial
cardiac resynchronization therapy
phase iii
study protocol
single cell
open label