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Review
. 2021 May 1;36(3):309-317.
doi: 10.1097/HCO.0000000000000841.

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

Rabah Alreshq  1   2 , Frederick L Ruberg  1   2   3
Affiliations
Review

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

Rabah Alreshq et al. Curr Opin Cardiol. .

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.

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Conflict of interest statement

Conflicts of interest

Rabah Alreshq: None.

Figures

Figure 1:
Figure 1:
Genetic testing and approach to asymptomatic carriers A proposed work-flow is outlined to guide clinicians when caring for asymptomatic, first-degree relatives of known amyloidogenic TTR allele carriers. Three phases are described that describe the context of testing and considerations. Note the multi-disciplinary team approach to provide both decision support as well as a thorough assessment of ATTR phenotypic expression. Abbreviations: PYP – Tc99m-pyrophosphate imaging (or equivalent), CMR – cardiac magnetic resonance imaging, EMG – electromyography, BNP – Brain-type natriuretic peptide.
See this image and copyright information in PMC

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