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.
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.
| Translated title of the contribution | FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association |
|---|---|
| Original language | Portuguese |
| Article number | e20230790 |
| Number of pages | 4 |
| Journal | Arquivos Brasileiros de Cardiologia |
| Volume | 121 |
| Issue number | 5 |
| DOIs | |
| State | Published - 2024 |