A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Roman P MyasnikovAnna A BukaevaOlga V KulikovaAlexey Nikolaevich MeshkovAnna Vitalievna KiselevaAlexandra ErshovaAnna PetukhovaMikhail G DivashukEvgenia D ZotovaEvgeniia SotnikovaAnastasia Alexandrovna ZharikovaAnastasia ZharikovaYuri VyatkinVasily RamenskyAlexandra A AbishevaAlisa MuravevaSergey N KoretskiyMaria KudryavtsevaSergey PopovMarina UtkinaElena MershinaValentin E SinitsynEvgeniya KoganOlga BlagovaOxana DrapkinaPublished in: Genes (2022)
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.
Keyphrases
- left ventricular
- hypertrophic cardiomyopathy
- heart failure
- genome wide
- cardiac resynchronization therapy
- copy number
- acute myocardial infarction
- left atrial
- aortic stenosis
- mitral valve
- early onset
- healthcare
- genome wide identification
- dna methylation
- risk factors
- atrial fibrillation
- gene expression
- transcatheter aortic valve replacement
- aortic valve
- genome wide analysis