Heart failure & cardiomyopathiesCohort study
Genetic and Phenotypic Characterization of Nexilin (NEXN)–Related Cardiomyopathy
- Multicentre retrospective genotype–phenotype cohort study
- 12 referral centres
- burden enrichment analysis vs gnomAD non-Finnish Europeans (NFE)
Authors' conclusion
NEXNtvs were significantly associated with DCM/NDLVC, characterized by mild cardiac abnormalities, infrequent heart failure, common fibrosis, and arrhythmias.
Study context
- Population
- Patients with rare, protein-altering NEXN variants from 12 referral centres
- Participants
- 60 NEXN carriers
- Exposure
- Dilated cardiomyopathy (DCM)/nondilated left ventricular cardiomyopathy (NDLVC) vs gnomAD NFE
Main finding
As reported in the abstract
Enrichment of NEXN-truncating variants
P = 0.0001
Observational data: associations, not effects.
Further findings
Phenotype of DCM/NDLVC with NEXNtv (n = 17)
- Median age
- 45 years [Q1-Q3: 36-55 years]
- Probands
- 88%
- Male
- 53%
- Indexed LV end-diastolic volume
- 69 mL [Q1-Q3: 46-87 mL]
- LVEF
- 44% [Q1-Q3: 31%-53%]
- Myocardial fibrosis
- 64%
- NYHA class I
- 71%
Outcomes during follow-up · 45-month median follow-up (Q1-Q3: 11-130 months)
- ICD implanted
- 53%
- Malignant ventricular arrhythmias
- 25%
Prognostic comparison with TTN-CMP and FLNC-CMP
- vs TTN-CMP: earlier and more frequent malignant ventricular arrhythmias (MVAs) at higher EF
- vs FLNC-CMP: no significant differences
Original publication
Genetic and Phenotypic Characterization of Nexilin (NEXN)–Related Cardiomyopathy. JACC Heart Fail. Published 18 July 2025. doi:10.1016/j.jchf.2025.102529
Summarised from the published abstract; every number is checked against it