%0 Case Reports
%T Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement.
%A Micaglio E
%A Santangelo G
%A Moscardelli S
%A Rusconi D
%A Musca F
%A Verde A
%A Campiglio L
%A Bursi F
%A Guazzi M
%J Front Cardiovasc Med
%V 10
%N 0
%D 2023
%M 37711552
%F 5.846
%R 10.3389/fcvm.2023.1164916
%X 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.