Genes (Feb 2022)
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the <i>FHOD3</i> Gene
- Roman Myasnikov,
- Anna Bukaeva,
- Olga Kulikova,
- Alexey Meshkov,
- Anna Kiseleva,
- Alexandra Ershova,
- Anna Petukhova,
- Mikhail Divashuk,
- Evgenia Zotova,
- Evgeniia Sotnikova,
- Maria Kharlap,
- Anastasia Zharikova,
- Yuri Vyatkin,
- Vasily Ramensky,
- Alexandra Abisheva,
- Alisa Muraveva,
- Sergey Koretskiy,
- Maria Kudryavtseva,
- Sergey Popov,
- Marina Utkina,
- Elena Mershina,
- Valentin Sinitsyn,
- Evgeniya Kogan,
- Olga Blagova,
- Oxana Drapkina
Affiliations
- Roman Myasnikov
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Anna Bukaeva
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Olga Kulikova
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Alexey Meshkov
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Anna Kiseleva
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Alexandra Ershova
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Anna Petukhova
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Mikhail Divashuk
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Evgenia Zotova
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Evgeniia Sotnikova
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Maria Kharlap
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Anastasia Zharikova
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Yuri Vyatkin
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Vasily Ramensky
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Alexandra Abisheva
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Alisa Muraveva
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Sergey Koretskiy
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Maria Kudryavtseva
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- Sergey Popov
- Federal State Budgetary Institution “National Medical Research Center of Endocrinology” of the Ministry of Health of Russia, 115478 Moscow, Russia
- Marina Utkina
- Federal State Budgetary Institution “National Medical Research Center of Endocrinology” of the Ministry of Health of Russia, 115478 Moscow, Russia
- Elena Mershina
- Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia
- Valentin Sinitsyn
- Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia
- Evgeniya Kogan
- Department of Faculty Therapy, I.M. Sechenov First Moscow Medical University (Sechenov University), 119991 Moscow, Russia
- Olga Blagova
- Department of Faculty Therapy, I.M. Sechenov First Moscow Medical University (Sechenov University), 119991 Moscow, Russia
- Oxana Drapkina
- National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia
- DOI
- https://doi.org/10.3390/genes13020309
- Journal volume & issue
-
Vol. 13,
no. 2
p. 309
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
- left ventricular noncompaction
- hypertrophic cardiomyopathy
- dilated cardiomyopathy
- <i>FHOD3</i>
- exon skipping
- intramyocardial fibrosis