A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Genes (Basel)
; 13(2)2022 02 07.
Article
en En
| MEDLINE
| ID: mdl-35205353
ABSTRACT
Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype-phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the FHOD3 gene. This is the first description of FHOD3-dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of FHOD3 splicing alterations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cardiomiopatía Hipertrófica
/
No Compactación Aislada del Miocardio Ventricular
/
Cardiopatías Congénitas
/
Cardiomiopatías
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Genes (Basel)
Año:
2022
Tipo del documento:
Article
País de afiliación:
Rusia