Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur. Currently, genetic testing for transthyretin pathogenic variants is recommended for patients with a confirmed clinical diagnosis of ATTR-CM. In fact, confirmation of this autosomal dominant pathogenic variant prompts genetic counselling and allows early identification of affected relatives. Additionally, in the presence of an ATTR-CM-associated polyneuropathy, specific drugs targeting transthyretin can be used. In this paper, we review the utility of genetic testing for the detection of pathogenic variants among patients harboring ATTR-CM and its impact on the natural history of the disease.

Keywords: family screening; genetics; transthyretin amyloidosis.

Figure 1

Diagnostic algorithm for cardiac amyloidosis. ATTR, transthyretin amyloidosis; ATTRv, hereditary transthyretin amyloidosis; ATTRwt, wild-type transthyretin amyloidosis; AL, light-chain amyloidosis; TTR, transthyretin. Adapted from: [4].

Figure 2

Major manifestations of the two subtypes of transthyretin-related cardiac amyloidosis. ATTRwt, wild-type transthyretin-related amyloidosis; ATTRv, variant transthyretin-related amyloidosis. Icons: Freepik fom https://www.flaticon.com/. Accessed on 1 November 2023.