Clinical approach to genetic testing in amyloid cardiomyopathy: from mechanism to effective therapies.
Curr Opin Cardiol
; 36(3): 309-317, 2021 05 01.
Article
em En
| MEDLINE
| ID: mdl-33605615
ABSTRACT
PURPOSE OF REVIEW To highlight the evolving understanding of genetic variants, utility of genetic testing, and the selection of novel therapies for cardiac amyloidosis. RECENT FINDINGS:
The last decade has seen considerable progress in cardiac amyloidosis recognition given the advancement in cardiac imaging techniques and widespread availability of genetic testing. A significant shift in the understanding of a genetic basis for amyloidosis has led to the development of disease-modifying therapeutic strategies that improve survival.SUMMARY:
The systemic amyloidoses are disorders caused by extracellular deposition of misfolded amyloid fibrils in various organs. Immunoglobulin light-chain or transthyretin amyloidosis are the most common types associated with cardiac manifestations. Genetic testing plays a central role in the identification of genotypes that are associated with different clinical phenotypes and influence prognosis. Given the emergence of effective therapies, a systematic approach to the diagnosis of cardiac amyloidosis, with the elucidation of genotype when indicated, is essential to select the appropriate treatment.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neuropatias Amiloides Familiares
/
Cardiomiopatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article