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ATTR Epidemiology, Genetics, and Prognostic Factors

Methodist DeBakey Cardiovascular Journal, 2022
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease and an underestimated cause of both heart failure and conduction abnormalities. It is characterized by pathologic accumulation of extracellular protein arising from unstable transthyretin (TTR) tetramers, which dissociate into monomers that misfold, aggregate, and form ...
William Mostertz, Chukwuemeka A Obi
exaly   +5 more sources

Quality of life assessment in amyloid transthyretin (ATTR) amyloidosis [PDF]

European Journal of Clinical Investigation, 2021
Background: Amyloid transthyretin (ATTR) amyloidosis is caused by the systemic deposition of transthyretin molecules, either normal (wild-type ATTR, ATTRwt) or mutated (variant ATTR, ATTRv). ATTR amyloidosis is a disease with a severe impact on patients’
Giovanni Palladini, Laura Obici, Giampaolo Merlini   +2 more
exaly   +2 more sources

Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy [PDF]

Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis, 2020
Background: Transthyretin amyloidosis due to V30M mutation (ATTR-V30M) is the most frequent hereditary ATTR amyloidosis. Besides neurophysiological measures, there are no biomarkers to detect preclinical disease or monitor disease progression.
David Leppert, Laura Obici, Giampaolo Merlini   +2 more
exaly   +3 more sources

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[The ATTR-ACT trial].

Giornale italiano di cardiologia (2006), 2019
La transtiretina (TTR) è una proteina di trasporto con struttura tetramerica sintetizzata principalmente (99% circa) dal fegato, che a livello ematico trasporta la tiroxina e la proteina legante il retinolo1. Proprio dalla sua funzione deriva il nome “transtiretina” [transthyretin: TRANS(ports)THY(roxin) and RETIN(ol)]. Esistono due tipi di amiloidosi
Rapezzi, C, Gagliardi, C, Milandri, A
openaire   +3 more sources

A transgenic rat with the human ATTR V30M: A novel tool for analyses of ATTR metabolisms

Biochemical and Biophysical Research Communications, 2007
Amyloidogenic transthyretin (ATTR) is the pathogenic protein of familial amyloidotic polyneuropathy (FAP). To establish a tool for analyses of ATTR metabolisms including after liver transplantations, we developed a transgenic rat model expressing human ATTR V30M and confirmed expressions of human ATTR V30M in various tissues.
Mitsuharu, Ueda, Yukio, Ando, Yoji, Hakamata, Masaaki, Nakamura, Taro, Yamashita, Konen, Obayashi, Shingo, Himeno, Seiichiro, Inoue, Yuki, Sato, Takashi, Kaneko, Nobutoki, Takamune, Shogo, Misumi, Shozo, Shoji, Makoto, Uchino, Eiji, Kobayashi   +14 more
openaire   +2 more sources

Targeted treatments of AL and ATTR amyloidosis

Heart Failure Reviews, 2021
The therapeutic landscape for cardiac amyloidosis is rapidly evolving. In the last decade, our focus has shifted from dealing with the inevitable complications of continued extracellular infiltration of amyloid fibrils to earlier identification of these patients with prompt initiation of targeted therapy to prevent further deposition.
Pranav, Chandrashekar, Anish K, Desai, Barry H, Trachtenberg   +2 more
openaire   +2 more sources

The Mayo ATTR-CM score versus other diagnostic scores and cardiac biomarkers in patients with suspected cardiac amyloidosis [PDF]

European Journal of Heart Failure
Aims: Several scores were developed to help the diagnosis of cardiac amyloidosis (CA). The most recent one, being the Mayo transthyretin amyloidosis cardiomyopathy (ATTR-CM) score, was not externally validated.
Giovanni Battista Bonfioli
exaly   +2 more sources

Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach

Journal of Clinical Medicine
Amyloidosis with cardiac involvement is a fatal disease leading to progressive heart failure. The most common forms of amyloidosis with cardiac involvement are light chain (AL) and transthyretin (ATTR) amyloidosis.
Fabian aus dem Siepen, Aus Dem Siepen Fabian   +1 more
exaly   +2 more sources

The Swedish landscape of hereditary ATTR amyloidosis

Amyloid, 2017
Northern Sweden is a well-known clustering area for hereditary transthyretin (TTR) amyloid (ATTR) amyloidosis caused by the Val30Met mutation.
Ole B, Suhr, Jonas, Wixner, Björn, Pilebro, Hans-Erik, Lundgren, Intissar, Anan   +4 more
openaire   +2 more sources