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Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy

We report the case of a 22-year-old male who visited a cardiologist after the first episode of atrial fibrillation (AF). Echocardiography and magnetic resonance imaging revealed decreased left ventricular (LV) systolic function with dilated LV. An intermittent second-degree AV (atrioventricular) blo...

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Autores principales: Mėlinytė-Ankudavičė, Karolina, Šukys, Marius, Plisienė, Jurgita, Jurkevičius, Renaldas, Ereminienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872048/
https://www.ncbi.nlm.nih.gov/pubmed/35205406
http://dx.doi.org/10.3390/genes13020363
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author Mėlinytė-Ankudavičė, Karolina
Šukys, Marius
Plisienė, Jurgita
Jurkevičius, Renaldas
Ereminienė, Eglė
author_facet Mėlinytė-Ankudavičė, Karolina
Šukys, Marius
Plisienė, Jurgita
Jurkevičius, Renaldas
Ereminienė, Eglė
author_sort Mėlinytė-Ankudavičė, Karolina
collection PubMed
description We report the case of a 22-year-old male who visited a cardiologist after the first episode of atrial fibrillation (AF). Echocardiography and magnetic resonance imaging revealed decreased left ventricular (LV) systolic function with dilated LV. An intermittent second-degree AV (atrioventricular) block was detected during 24 h Holter monitoring. Genetic test revealed the pathogenic variant of the BAG3 (BLC2-associated athanogene 3) gene. Due to the high risk of heart failure (HF) progression and ventricular arrhythmias, an event recorder was implanted and a pathogenetic HF treatment was prescribed. The analysis of genealogy revealed that the patient’s father, at the age of 32, was diagnosed with dilated cardiomyopathy (DCM) and recurrent AF episodes. Genetic testing also confirmed a pathogenic variant of the BAG3 gene. Currently, with the optimal treatment of HF, the patient’s disease has been stable for three years and the condition is closely monitored on an outpatient basis. So, we demonstrate the importance of early detection for genetic testing and the unusual stability exhibited by the patient‘s optimal medical therapy for 3 years.
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spelling pubmed-88720482022-02-25 Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy Mėlinytė-Ankudavičė, Karolina Šukys, Marius Plisienė, Jurgita Jurkevičius, Renaldas Ereminienė, Eglė Genes (Basel) Case Report We report the case of a 22-year-old male who visited a cardiologist after the first episode of atrial fibrillation (AF). Echocardiography and magnetic resonance imaging revealed decreased left ventricular (LV) systolic function with dilated LV. An intermittent second-degree AV (atrioventricular) block was detected during 24 h Holter monitoring. Genetic test revealed the pathogenic variant of the BAG3 (BLC2-associated athanogene 3) gene. Due to the high risk of heart failure (HF) progression and ventricular arrhythmias, an event recorder was implanted and a pathogenetic HF treatment was prescribed. The analysis of genealogy revealed that the patient’s father, at the age of 32, was diagnosed with dilated cardiomyopathy (DCM) and recurrent AF episodes. Genetic testing also confirmed a pathogenic variant of the BAG3 gene. Currently, with the optimal treatment of HF, the patient’s disease has been stable for three years and the condition is closely monitored on an outpatient basis. So, we demonstrate the importance of early detection for genetic testing and the unusual stability exhibited by the patient‘s optimal medical therapy for 3 years. MDPI 2022-02-17 /pmc/articles/PMC8872048/ /pubmed/35205406 http://dx.doi.org/10.3390/genes13020363 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
Mėlinytė-Ankudavičė, Karolina
Šukys, Marius
Plisienė, Jurgita
Jurkevičius, Renaldas
Ereminienė, Eglė
Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy
title Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy
title_full Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy
title_fullStr Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy
title_full_unstemmed Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy
title_short Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy
title_sort genotype-phenotype correlation in familial bag3 mutation dilated cardiomyopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872048/
https://www.ncbi.nlm.nih.gov/pubmed/35205406
http://dx.doi.org/10.3390/genes13020363
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