Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Cardiac amyloidosis
hereditary amyloidosis
hereditary transthyretin amyloidosis
homozygote
p.Val142Ile; V122I mutation
Journal
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
ISSN: 1744-2818
Titre abrégé: Amyloid
Pays: England
ID NLM: 9433802
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
medline:
5
12
2023
pubmed:
28
6
2023
entrez:
28
6
2023
Statut:
ppublish
Résumé
Hereditary transthyretin (ATTRv) p.Val142Ile (V122I) mutation is the most common inherited cause of cardiac amyloidosis and little is known about the phenotype and outcome of the rare homozygotic genotype. This study aimed to compare phenotypic characteristics and outcomes between heterozygous and homozygous patients with ATTRv V122I amyloidosis. This monocentric, observational, retrospective study conducted at the French National Referral Centre for Cardiac Amyloidosis (Henri Mondor Hospital, Créteil), described clinical, electrocardiographic, cardiac imaging features and prognostic data for patients with ATTRv V122I amyloidosis. Among 185 ATTRv V122I patients identified, 161 were heterozygous and 24 were homozygous. The homozygous frequency was 13%. Onset occured significantly earlier in the homozygotes compared to heterozygotes with earlier median age at diagnosis (67[63-71] years vs 76[70-79] years, This rare, homozygous V122I cohort confirmed the earlier age of onset, death and cardiac events in this population.
Sections du résumé
BACKGROUND
UNASSIGNED
Hereditary transthyretin (ATTRv) p.Val142Ile (V122I) mutation is the most common inherited cause of cardiac amyloidosis and little is known about the phenotype and outcome of the rare homozygotic genotype. This study aimed to compare phenotypic characteristics and outcomes between heterozygous and homozygous patients with ATTRv V122I amyloidosis.
MATERIAL AND METHODS
UNASSIGNED
This monocentric, observational, retrospective study conducted at the French National Referral Centre for Cardiac Amyloidosis (Henri Mondor Hospital, Créteil), described clinical, electrocardiographic, cardiac imaging features and prognostic data for patients with ATTRv V122I amyloidosis.
RESULTS
UNASSIGNED
Among 185 ATTRv V122I patients identified, 161 were heterozygous and 24 were homozygous. The homozygous frequency was 13%. Onset occured significantly earlier in the homozygotes compared to heterozygotes with earlier median age at diagnosis (67[63-71] years vs 76[70-79] years,
CONCLUSION
UNASSIGNED
This rare, homozygous V122I cohort confirmed the earlier age of onset, death and cardiac events in this population.
Identifiants
pubmed: 37377439
doi: 10.1080/13506129.2023.2227322
doi:
Substances chimiques
Prealbumin
0
Types de publication
Observational Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM