A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Genes (Basel)
; 13(2)2022 02 07.
Article
in English
| MEDLINE | ID: covidwho-1715230
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.
Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Cardiomyopathy, Hypertrophic
/
Isolated Noncompaction of the Ventricular Myocardium
/
Heart Defects, Congenital
/
Cardiomyopathies
Type of study:
Case report
/
Prognostic study
Topics:
Long Covid
/
Variants
Limits:
Humans
Language:
English
Year:
2022
Document Type:
Article
Affiliation country:
Genes13020309
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