NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
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Hermida Alexis, Ader Flavie, Millat Gilles, Jedraszak Guillaume, Maury Phillipe, Cador Romain, Catalan Pierre-Antoine, Clerici Gaël, Combes Nicolas, De Groote Pascal, Dupin-Deguine Delphine, Eschalier Romain, Faivre Laurence, Garcia Patricia, Guillon Benoit, Janin Alexandre, Kugener Beatrice, Lackmy Marylin, Laredo Mikael, Le Guillou Xavier, Lesaffre François, Lucron Hugues, Milhem Antoine, Nadeau Gwenaël, Nguyen Karine, Palmyre Aurélien, Perdreau Elodie, Picard François, Rebotier Nicolas, Richard Pascale, Rooryck Caroline, Seitz Julien, Verloes Alain, Vernier Agathe, Winum Pierre, Yabeta Grace-A-Dieu, Bouchot Océane, Chevalier Philippe, Charron Philippe, Gandjbakhch Estelle
Аннотация
METHODS: DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the NEXN gene were selected.
RESULTS: Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in NEXN only, including 2 with double variants and 29 with a single variant. Of the 29 unrelated probands with a single variant (16 males; median age at diagnosis, 32.0 [26.0-49.0] years), 21 presented with dilated cardiomyopathy (prevalence, 0.33%), and 3 presented with hypertrophic cardiomyopathy (prevalence, 0.14%). Three patients had idiopathic ventricular fibrillation, and there were 2 cases of sudden infant death syndrome (prevalence, 0.46%). For patients with dilated cardiomyopathy, the median left ventricle ejection fraction was 37.5% (26.25-50.0) at diagnosis and improved with treatment in 13 (61.9%). Over a median follow-up period of 6.0 years, we recorded 3 severe arrhythmic events and 2 severe hemodynamic events.
CONCLUSIONS: Putative pathogenic NEXN variants were mainly associated with dilated cardiomyopathy; in these individuals, the prognosis appeared to be relatively good. However, severe and early onset phenotypes were also observed-especially in patients with double NEXN variants. We also detected NEXN variants in patients with hypertrophic cardiomyopathy and sudden infant death syndrome/idiopathic ventricular fibrillation, although a causal link could not be established.