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.

Figura 1. Ressonância magnética cardíaca: sequência cine SSFP TrusFisp em eixo longo 2 câmaras e eixo curto onde se observa hipertrabeculação significativa da cavidade ventricular esquerda, comprometendo as paredes lateral e inferior e médio-apical com relação região não compactada/região compactada de 4.

Figura 2. Informações de pedigree do paciente e familiares. Seta preta: o probando. Vermelha: Cardiomiopatia restritiva (*): Avaliação documentada. A nomenclatura padronizada de pedigree humano foi seguida (J Genet Counsel (2008) 17:424–433).

Figure 1. Cardiac magnetic resonance: cine SSFP TrusFisp sequence in long axis 2-chamber and short axis where significant hypertrabeculation of the left ventricular cavity is observed, compromising the lateral and inferior and mid-apical walls with a non-compaction region/compaction region ratio of 4.

Figure 2. Pedigree information of the patient and relatives. Black arrow: the proband Red: Restrictive cardiomyopathy (*): Documented evaluation. Standardized human pedigree nomenclature was followed (J Genet Counsel (2008) 17:424–433).