Clinical approach to genetic testing in amyloid cardiomyopathy: from mechanism to effective therapies. (May 2021)

• Record Type: Journal Article
• Authors: Alreshq, Rabah; Ruberg, Frederick L.
• Is Part Of: Current opinion in cardiology. Volume 36:Number 3(2021)
• Publication Date: 2021-05
• Subjects: cardiac amyloidosis -- genetic cardiomyopathy -- genotypes; Cardiology -- Periodicals; Cardiology -- Periodicals; Heart Diseases -- Periodicals; Cardiology; Periodicals; 616.12
• DOI: 10.1097/HCO.0000000000000841
• Languages: English
• ISSNs: 0268-4705

Abstract

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.