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Article

A phenotypic comparison of the Romanian and French ATTRv cohorts: Glu54Gln founder pathogenic variant vs the most common variants in Western Europe.

International journal of cardiology - 15 Jan 2025

Neculae Gabriela, Zaroui Amira, Kharoubi Mounira, Bézard Mélanie, Funalot Benoit, Adam Robert, Jercan Andreea, Badelita Sorina, Draghici Mirela, Stan Claudiu, Coriu Daniel, Jurcut Ruxandra, Damy Thibaud

Abstract excerpt

AIM AND METHODS: We conducted a retrospective observational study of the ATTRv heterozygous mutation frequency, phenotype, and all-cause mortality at two cardiac amyloidosis centers in Romania and France. RESULTS: 291 patients were included: 26 Glu54Gln (all Romanian), 200 Val122Ile, 47 Val30Met and 18 Ser77Tyr. On diagnosis, Gu54Gln patients were younger than Val122Ile or late-onset Val30Met (median age: 46...

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PMID: 39521178
DOI: 10.1016/j.ijcard.2024.132714

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