{Reference Type}: Case Reports
{Title}: Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement.
{Author}: Micaglio E;Santangelo G;Moscardelli S;Rusconi D;Musca F;Verde A;Campiglio L;Bursi F;Guazzi M;
{Journal}: Front Cardiovasc Med
{Volume}: 10
{Issue}: 0
{Year}: 2023
{Factor}: 5.846
{DOI}: 10.3389/fcvm.2023.1164916
{Abstract}: 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.