Clinical approach to genetic testing in amyloid cardiomyopathy: from mechanism to effective therapies.

To highlight the evolving understanding of genetic variants, utility of genetic testing, and the selection of novel therapies for cardiac amyloidosis. 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. 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. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

Citation

Rabah Alreshq, Frederick L Ruberg. Clinical approach to genetic testing in amyloid cardiomyopathy: from mechanism to effective therapies. Current opinion in cardiology. 2021 May 01;36(3):309-317

Mesh Tags

PMID: 33605615

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