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Author

Luciana Sacilotto

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2 papers indexed here

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Oct 2026

FLNC-Related Cardiomyopathies in an Admixed Population: Expanding the Genotype-Phenotype Spectrum and Clinical Correlates.

BACKGROUND Pathogenic and likely pathogenic variants in filamin C (FLNC) cause a broad spectrum of cardiomyopathies. However, available genotype-phenotype data are derived predominantly from European and North American populations, with limited representation of admixed populations. METHODS We characterized carriers...

N. Olivetti, Luciana Sacilotto, Julia de Barros Negri Ferreira et al. · 0 citations
Case report Open access Sep 2026

Phenotypic Transition From Danon Disease to Arrhythmogenic Cardiomyopathy: Multimodality and Histopathologic Evidence.

BACKGROUND Pathogenic variants in lysosome-associated membrane protein 2 (LAMP2) gene cause X-linked Danon disease, associated with hypertrophic cardiomyopathy. Arrhythmogenic cardiomyopathy is characterized by myocardial fibrofatty replacement and ventricular arrhythmias. CASE SUMMARY A 30-year-old woman presented w...

Natália Quintella Sangiorgi Olivetti, Giovana Pereira Belitardo, Felipe Cerqueira Matheus et al. · 0 citations

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