FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association

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.

Keywords Restrictive Cardiomyopathy; Genetics; Filamins