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.
Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement / E. Micaglio, G. Santangelo, S. Moscardelli, D. Rusconi, F. Musca, A. Verde, L. Campiglio, F. Bursi, M. Guazzi. - In: FRONTIERS IN CARDIOVASCULAR MEDICINE. - ISSN 2297-055X. - 10:(2023), pp. 11649161.1-11649161.6. [10.3389/fcvm.2023.1164916]
Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
S. Moscardelli;F. Bursi
Penultimo
;M. GuazziUltimo
2023
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.File | Dimensione | Formato | |
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