Open AccessTransthyretin cardiac amyloidosis: an update on diagnosis and treatment
Author(s) -
Yamamoto Hiroyuki,
Yokochi Tomoki
Publication year - 2019
Publication title -
esc heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.787
H-Index - 25
ISSN - 2055-5822
DOI - 10.1002/ehf2.12518
Subject(s) - transthyretin , amyloidosis , cardiac amyloidosis , medicine , amyloid (mycology) , cardiomyopathy , heart failure , ejection fraction , amyloid fibril , heart failure with preserved ejection fraction , amyloid disease , disease , pathology , bioinformatics , cardiology , amyloid β , biology
Transthyretin cardiac amyloidosis (ATTR‐CA) demonstrates progressive, potentially fatal, and infiltrative cardiomyopathy caused by extracellular deposition of transthyretin‐derived insoluble amyloid fibrils in the myocardium. Two distinct types of transthyretin (wild type or variant) become unstable, and misfolding forms aggregate, resulting in amyloid fibrils. ATTR‐CA, which has previously been underrecognized and considered to be rare, has been increasingly recognized as a cause of heart failure with preserved ejection fraction among elderly persons. With the advanced technology, the diagnostic tools have been improving for cardiac amyloidosis. Recently, the efficacy of several disease‐modifying agents focusing on the amyloidogenic process has been demonstrated. ATTR‐CA has been changing from incurable to treatable. Nevertheless, there are still no prognostic improvements due to diagnostic delay or misdiagnosis because of phenotypic heterogeneity and co‐morbidities. Thus, it is crucial for clinicians to be aware of this clinical entity for early diagnosis and proper treatment. In this mini‐review, we focus on recent advances in diagnosis and treatment of ATTR‐CA.