| Autor: |
Aristizabal AM; Facultad de Ciencias de la Salud, Universidad Icesi, Cali - Colômbia.; Departamento de Cardiología Pediátrica - Fundación Valle del Lili, Cali - Colômbia., Guzmán-Serrano CA; Centro de Investigaciones Clínicas - Fundación Valle del Lili, Cali - Colômbia., Lizcano MI; Departamento de Cardiología Pediátrica - Hospital Universitario del Valle, Cali - Colômbia., Mosquera W; Departamento de Cardiología Pediátrica - Fundación Valle del Lili, Cali - Colômbia., Lores J; Centro de Investigaciones Clínicas - Fundación Valle del Lili, Cali - Colômbia.; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER) - Universidad Icesi, Cali - Colômbia.; Departamento de Ciencias Básicas - Facultad de Ciencias de la Salud - Pontificia Universidad Javeriana Cali, Cali - Colômbia., Pachajoa H; Centro de Investigaciones Clínicas - Fundación Valle del Lili, Cali - Colômbia.; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER) - Universidad Icesi, Cali - Colômbia.; Servicio de Genética - Fundación Valle del Lili, Cali - Colômbia., Cely C; Departamento de Cardiología Pediátrica - Fundación Valle del Lili, Cali - Colômbia. |
| Abstrakt: |
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. |
