TY - JOUR
T1 - FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association
AU - Aristizabal, Ana M.
AU - Guzmán-Serrano, Carlos Alberto
AU - Lizcano, María Isabel
AU - Mosquera, Walter
AU - Lores, Juliana
AU - Pachajoa, Harry
AU - Cely, Cesar
N1 - Publisher Copyright:
© 2024, Sociedade Brasileira de Cardiologia. All rights reserved.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - Filamins
KW - Genetics
KW - Restrictive Cardiomyopathy
UR - http://www.scopus.com/inward/record.url?scp=85197041522&partnerID=8YFLogxK
U2 - 10.36660/abc.20230790i
DO - 10.36660/abc.20230790i
M3 - Article
C2 - 38922273
AN - SCOPUS:85197041522
SN - 0066-782X
VL - 121
JO - Arquivos Brasileiros de Cardiologia
JF - Arquivos Brasileiros de Cardiologia
IS - 5
M1 - e20230790
ER -