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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-8872048 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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