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.

Clinical translation of genetic testing in TTR Amyloidosis. genotype-phenotype correlations, management of asymptomatic carriers and familial screening / Scirpa, R.; Russo, D.; Tini, G.; Sclafani, M.; Tropea, A.; Cava, F.; Autore, C.; Musumeci, B.. - In: VESSEL PLUS. - ISSN 2574-1209. - 6:(2022), pp. 1-11. [10.20517/2574-1209.2021.74]

Clinical translation of genetic testing in TTR Amyloidosis. genotype-phenotype correlations, management of asymptomatic carriers and familial screening

Scirpa R.;Russo D.;Tini G.;Sclafani M.;Tropea A.;Autore C.;Musumeci B.
2022

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.
2022
cardiac amyloidosis; transthyretin amyloidosis; genetic testing; genotype-phenotype correlations; familiar screening
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Clinical translation of genetic testing in TTR Amyloidosis. genotype-phenotype correlations, management of asymptomatic carriers and familial screening / Scirpa, R.; Russo, D.; Tini, G.; Sclafani, M.; Tropea, A.; Cava, F.; Autore, C.; Musumeci, B.. - In: VESSEL PLUS. - ISSN 2574-1209. - 6:(2022), pp. 1-11. [10.20517/2574-1209.2021.74]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1684643
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