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Scirpa et al. Vessel Plus 2022;6:52 Vessel Plus
DOI: 10.20517/2574-1209.2021.74

Review Open Access

Clinical translation of genetic testing in TTR

Amyloidosis: genotype-phenotype correlations,
management of asymptomatic carriers and familial

screening

Riccardo Scirpa, Domitilla Russo, Giacomo Tini, Matteo Sclafani, Alessandro Tropea, Francesco Cava,
Camillo Autore, Beatrice Musumeci

Cardiology, Clinical and Molecular Medicine Department, Faculty of Medicine and Psychology, Sapienza University of Rome,
Rome 00189, Italy.
Correspondence to: Beatrice Musumeci, Cardiology, Clinical and Molecular Medicine Department, Faculty of Medicine and
Psychology, Sapienza University of Rome, via di Grottarossa 1035, Rome 00189, Italy. E-mail: beatrice.musumeci@gmail.com
How to cite this article: Scirpa R, Russo D, Tini G, Sclafani M, Tropea A, Cava F, Autore C, Musumeci B. Clinical translation of
genetic testing in TTR Amyloidosis: genotype-phenotype correlations, management of asymptomatic carriers and familial
screening. Vessel Plus 2022;6:52. https://dx.doi.org/10.20517/2574-1209.2021.74

Received: 18 May 2021 First Decision: 9 Feb 2022 Revised: 24 Feb 2022 Accepted: 18 Mar 2022 Published: 30 Sep 2022

Academic Editors: Igor Sobenin, Ugolino Livi Copy Editor: Jia-Xin Zhang Production Editor: Jia-Xin Zhang

Abstract
Transthyretin (TTR)-related amyloidosis (ATTR) is a heterogeneous disease with different organ involvement
depending on the type of TTR infiltration [mutated (vTTR) or wild-type (wtTTR)]. Genetic testing in ATTR is
required to define diagnosis and identify asymptomatic at-risk family members. Since new therapies are maximally
effective in the early stages of the disease, there is a growing agreement about the need for close monitoring of
genotype-positive, phenotype-negative individuals to assure a prompt treatment when minor disease signs are
detected. This review summarizes the complexity of genotype-phenotype correlation and revises the current
indications with respect to familiar screening and management of asymptomatic carriers.

Keywords: Cardiac amyloidosis, transthyretin amyloidosis, genetic testing, genotype-phenotype correlations,
familiar screening

INTRODUCTION
Transthyretin (TTR)-related amyloidosis (ATTR) is caused by extracellular deposition of the misfolded

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