Arq. Bras. Cardiol. 2024; 121(5): e20230790
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
Abstract
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.
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association
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