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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene

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 c...

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Autores principales: Myasnikov, Roman, Bukaeva, Anna, Kulikova, Olga, Meshkov, Alexey, Kiseleva, Anna, Ershova, Alexandra, Petukhova, Anna, Divashuk, Mikhail, Zotova, Evgenia, Sotnikova, Evgeniia, Kharlap, Maria, Zharikova, Anastasia, Vyatkin, Yuri, Ramensky, Vasily, Abisheva, Alexandra, Muraveva, Alisa, Koretskiy, Sergey, Kudryavtseva, Maria, Popov, Sergey, Utkina, Marina, Mershina, Elena, Sinitsyn, Valentin, Kogan, Evgeniya, Blagova, Olga, Drapkina, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872028/
https://www.ncbi.nlm.nih.gov/pubmed/35205353
http://dx.doi.org/10.3390/genes13020309
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author Myasnikov, Roman
Bukaeva, Anna
Kulikova, Olga
Meshkov, Alexey
Kiseleva, Anna
Ershova, Alexandra
Petukhova, Anna
Divashuk, Mikhail
Zotova, Evgenia
Sotnikova, Evgeniia
Kharlap, Maria
Zharikova, Anastasia
Vyatkin, Yuri
Ramensky, Vasily
Abisheva, Alexandra
Muraveva, Alisa
Koretskiy, Sergey
Kudryavtseva, Maria
Popov, Sergey
Utkina, Marina
Mershina, Elena
Sinitsyn, Valentin
Kogan, Evgeniya
Blagova, Olga
Drapkina, Oxana
author_facet Myasnikov, Roman
Bukaeva, Anna
Kulikova, Olga
Meshkov, Alexey
Kiseleva, Anna
Ershova, Alexandra
Petukhova, Anna
Divashuk, Mikhail
Zotova, Evgenia
Sotnikova, Evgeniia
Kharlap, Maria
Zharikova, Anastasia
Vyatkin, Yuri
Ramensky, Vasily
Abisheva, Alexandra
Muraveva, Alisa
Koretskiy, Sergey
Kudryavtseva, Maria
Popov, Sergey
Utkina, Marina
Mershina, Elena
Sinitsyn, Valentin
Kogan, Evgeniya
Blagova, Olga
Drapkina, Oxana
author_sort Myasnikov, Roman
collection PubMed
description 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.
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spelling pubmed-88720282022-02-25 A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene Myasnikov, Roman Bukaeva, Anna Kulikova, Olga Meshkov, Alexey Kiseleva, Anna Ershova, Alexandra Petukhova, Anna Divashuk, Mikhail Zotova, Evgenia Sotnikova, Evgeniia Kharlap, Maria Zharikova, Anastasia Vyatkin, Yuri Ramensky, Vasily Abisheva, Alexandra Muraveva, Alisa Koretskiy, Sergey Kudryavtseva, Maria Popov, Sergey Utkina, Marina Mershina, Elena Sinitsyn, Valentin Kogan, Evgeniya Blagova, Olga Drapkina, Oxana Genes (Basel) Case Report 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. MDPI 2022-02-07 /pmc/articles/PMC8872028/ /pubmed/35205353 http://dx.doi.org/10.3390/genes13020309 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Myasnikov, Roman
Bukaeva, Anna
Kulikova, Olga
Meshkov, Alexey
Kiseleva, Anna
Ershova, Alexandra
Petukhova, Anna
Divashuk, Mikhail
Zotova, Evgenia
Sotnikova, Evgeniia
Kharlap, Maria
Zharikova, Anastasia
Vyatkin, Yuri
Ramensky, Vasily
Abisheva, Alexandra
Muraveva, Alisa
Koretskiy, Sergey
Kudryavtseva, Maria
Popov, Sergey
Utkina, Marina
Mershina, Elena
Sinitsyn, Valentin
Kogan, Evgeniya
Blagova, Olga
Drapkina, Oxana
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
title A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
title_full A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
title_fullStr A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
title_full_unstemmed A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
title_short A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
title_sort case of severe left-ventricular noncompaction associated with splicing altering variant in the fhod3 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872028/
https://www.ncbi.nlm.nih.gov/pubmed/35205353
http://dx.doi.org/10.3390/genes13020309
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