AUTHOR=Micaglio Emanuele , Santangelo Gloria , Moscardelli Silvia , Rusconi Daniela , Musca Francesco , Verde Alessandro , Campiglio Laura , Bursi Francesca , Guazzi Marco 

TITLE=Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2023.1164916

DOI=10.3389/fcvm.2023.1164916

ISSN=2297-055X

ABSTRACT=<p>Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.</p>