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

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

doi:10.3389/fcvm.2023.1164916

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

Front Cardiovasc Med. 2023 Aug 29:10:1164916. doi: 10.3389/fcvm.2023.1164916. eCollection 2023.

Authors

Emanuele Micaglio¹, Gloria Santangelo², Silvia Moscardelli², Daniela Rusconi³, Francesco Musca⁴, Alessandro Verde⁴, Laura Campiglio⁵, Francesca Bursi⁵, Marco Guazzi⁵

Affiliations

¹ Arrhythmia and Electrophysiology Department, IRCCS Policlinico San Donato, Milan, Italy.
² Division of Cardiology, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy.
³ Pathological Anatomy, Cytogenetics, Molecular Pathology, San Paolo Hospital, ASST Santi Paolo and Carlo, Milan, Italy.
⁴ UO Cardiologia 4, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
⁵ Clinical Neurology Unit, ASST Santi Paolo e Carlo, Department of Neuroscience, University of Milan, Milan, Italy.

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.

Keywords: Val142Ile; atrial fibrillation; hereditary transthyretin amyloidosis cardiomyopathy; homozygous variant; stroke.

Publication types

Case Reports

Grants and funding

This study was partially supported by Ricerca Corrente funding from Italian Ministry of Health to IRCCS Policlinico San Donato. Supported partially by Ricerca Corrente (Italian Ministry of Research).