Genotype-Phenotype Correlation in Familial BAG3 Mutation Dilated Cardiomyopathy

Genes

Renaldas Jurkevičius¹  Karolina Mėlinytė-Ankudavičė¹  Eglė Ereminienė¹  Jurgita Plisienė¹  Marius Šukys² 

[1] Department of Cardiology, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania;Department of Genetics and Molecular Medicine, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania;

关键词: BAG3;    dilated cardiomyopathy;    heart failure;    inherited cardiomyopathies;   

DOI  :  10.3390/genes13020363

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown