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

• Published in: Amyloid 2023-10, Vol.ahead-of-print (ahead-of-print), p.1-9
• Main Authors: Albenque, Grégoire, Bézard, Mélanie, Kharoubi, Mounira, Odouard, Shirley, Lunati, Ariane, Poullot, Elsa, Zaroui, Amira, Teiger, Emmanuel, Hittinger, Luc, Audard, Vincent, El Karoui, Khalil, Funalot, Benoît, Fanen, Pascale, Damy, Thibaud, Oghina, Silvia
• Format: Article
• Language: English
• Subjects: Cardiac amyloidosis; hereditary amyloidosis; hereditary transthyretin amyloidosis; homozygote; Life Sciences; p.Val142Ile; V122I mutation
• ISSN: 1350-6129; 1744-2818
• DOI: 10.1080/13506129.2023.2227322

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, p