Genotype-Phenotype Correlation in Familial <i>BAG3</i> 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) 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

Acquired Cardiovascular Diseases in Patients with Pulmonary Hypertension Due to Congenital Heart Disease: A Case Report

Background: Advances in the diagnosis and treatment of congenital heart diseases (CHDs) have resulted in improved survival rates for CHD patients. Up to 90% of individuals with mild CHD and 40% with complex CHD now reach the age of 60. Previous studies have indicated an elevated risk of atherosclerotic cardiovascular disease (ASCVD) and associated risk factors, morbidity, and mortality in adults with congenital heart disease (ACHD). However, there were no comprehensive guidelines for the prevention and management of acquired cardiovascular diseases (CVDs) in ACHD populations until recently. Case presentation: A 55-year-old man with Eisenmenger syndrome and comorbidities (arterial hypertension, heart failure, dyslipidemia, hyperuricemia, and a history of pulmonary embolism (PE)) presented with progressive breathlessness. The electrocardiogram (ECG) revealed signs of right ventricle (RV) hypertrophy and overload, while echocardiography showed reduced RV function, RV overload, and severe pulmonary hypertension (PH) signs, and preserved left ventricle (LV) function. After ruling out a new PE episode, acute coronary syndrome (ACS) was diagnosed, and percutaneous intervention was performed within 24–48 h of admission. Conclusions: This case highlights the importance of increased awareness of acquired heart diseases in patients with pulmonary hypertension due to CHD

Association of Whole-Heart Myocardial Mechanics by Transthoracic Echocardiography with Presence of Late Gadolinium Enhancement by CMR in Non-Ischemic Dilated Cardiomyopathy

Background: In patients with non-ischemic dilated cardiomyopathy (NIDCM), myocardial fibrosis (MF) is related to adverse cardiovascular outcomes. The purpose of this study was to evaluate the potential relationship between the myocardial mechanics of different chambers of the heart and the presence of MF and to determine the accuracy of the whole-heart myocardial strain parameters to predict MF in patients with NIDCM. Methods: We studied 101 patients (64% male; 50 &plusmn; 11 years) with a first-time diagnosis of NIDCM who were referred for a clinical cardiovascular magnetic resonance (CMR) and speckle tracking 2D echocardiography examination. We analyzed MF by late gadolinium enhancement (LGE), and the whole-heart myocardial mechanics were assessed by speckle tracking. The presence of MF was related to worse strain parameters in both ventricles and atria. The strongest correlations were found between MF and left ventricle (LV) global longitudinal strain (GLS) (r = &minus;0.586, p &lt; 0.001), global circumferential strain (GCS) (r = &minus;0.609, p &lt; 0.001), LV ejection fraction (LVEF) (r = 0.662, p &lt; 0.001), and left atrial strain during the reservoir phase (LASr) (r = 0.588, p &lt; 0.001). However, the binary logistic regression analysis revealed that only LV GLS, GCS, and LASr were independently associated with the presence of MF (area under the curves of 0.84, 0.85, and 0.64, respectively). None of the echocardiographic parameters correlated with fibrosis localization. Conclusions: In NIDCM patients, MF is correlated with reduced mechanical parameters in both ventricles and atria. LV GLS, LASr, and LV GCS are the most accurate 2D echocardiography predictive factors for the presence of MF

T wawe alternans : methodology of evaluation

Informatikos fakultetasKauno medicinos universiteto Kardiologijos institutasTaikomosios informatikos katedraVytauto Didžiojo universiteta

Evaluation of Satisfaction with Healthcare Services in Multimorbid Patients Using PACIC+ Questionnaire: A Cross-Sectional Study

Background and Objectives: Although multimorbidity poses many challenges for both individuals and healthcare systems, information on how these patients assess the quality of their healthcare is lacking. This study assessed the multimorbid patients’ satisfaction with their healthcare. Materials and Methods: This cross-sectional study was a part of a project Joint Action—Chronic Diseases and Promoting Healthy Ageing across the Life Cycle and its implementation. The study included 400 patients with arterial hypertension and at least one concomitant chronic disease. Patients completed The Patient Assessment of Care for Chronic Conditions Plus (PACIC+) questionnaire, EuroQol Five-Dimensions—Three-Level Quality of Life questionnaire, and Hospital Anxiety and Depression scale. Results: The mean age of the participants was 65.38 years; there were 52.5% women. The mean PACIC+ 5As summary score was 3.60. With increasing age, participants rated worse on most PACIC+ subscales. Participants who assessed their quality of life as worse were also less satisfied with their healthcare. The presence of three or more concomitant diseases negatively affected PACIC+ scores. Patients with ischemic heart disease and heart failure had lower PACIC+ scores on most subscales, whereas patients with atrial fibrillation had lower scores only on the Agree subscale. The presence of diabetes was not associated with worse PACIC+ scores; moreover, the scores in Assist and Arrange subscales were even better in diabetic patients (3.36 vs. 2.80, p = 0.000 and 3.69 vs. 3.13, p = 0.008, respectively). Patients with chronic obstructive pulmonary disease, asthma, and musculoskeletal disorders showed lower PACIC+ scores. Conclusions: Older age, worse self-assessed health state, presence of three or more diseases, and certain chronic diseases were associated with lower patients’ satisfaction with their healthcare. Personalized healthcare, increasing competencies of primary healthcare teams, healthcare services accessibility, and financial motivation of healthcare providers may increase multimorbid patients’ satisfaction with their healthcare