FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association

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

Producción: Contribución a una revistaArtículorevisión exhaustiva

2 Citas (Scopus)

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.

Idioma originalInglés
Número de artículoe20230790
PublicaciónArquivos Brasileiros de Cardiologia
Volumen121
N.º5
DOI
EstadoPublicada - 2024

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