FLNC Associada a Cardiomiopatia Restritiva e Hipertrabeculação, uma Associação Rara

Ana M. Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, Walter Mosquera, Juliana Lores, Harry Pachajoa, Cesar Cely

Producción: Contribución a una revistaArtículo con reporte de casorevisión exhaustiva

Resumen

A six-year-old girl with restrictive cardiomyopathy and
hypertrabeculation, due to the early onset of her disease,
whole exome sequencing was conducted, revealing the
presence of a novel heterozygous missense variant in the
FLNC gene. The same gene variant was also identified in her
father, who, at an adult age, displayed normal imaging results
and was symptom-free. This variant has not been reported
in population databases or current medical literature and is
classified as likely pathogenic.
Título traducido de la contribuciónFLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association
Idioma originalPortugués
Número de artículoe20230790
Número de páginas4
PublicaciónArquivos Brasileiros de Cardiologia
Volumen121
N.º5
DOI
EstadoPublicada - 2024

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