To assess the value of cardiac MRI in comparison to echocardiography in consecutive patients with previously diagnosed and new suspected hypertrophic cardiomyopathy (HCM).

A better understanding of the left ventricle (LV) and right ventricle (RV) functioning would help with the differentiation between athlete's heart and dilated cardiomyopathy (DCM). We aimed to analyse deformation parameters in endurance athletes relative to patients with DCM using cardiac magnetic resonance feature tracking (CMR-FT). The study included males of a similar age: 22 ultramarathon runners, 22 patients with DCM and 21 sedentary healthy controls (41 ± 9 years). The analysed parameters were peak LV global longitudinal, circumferential and radial strains (GLS, GCS and GRS, respectively); peak LV torsion; peak RV GLS. The peak LV GLS was similar in controls and athletes, but lower in DCM (p < 0.0001). Peak LV GCS and GRS decreased from controls to DCM (both p < 0.0001). The best value for differentiation between DCM and other groups was found for the LV ejection fraction (area under the curve (AUC) = 0.990, p = 0.0001, with 90.9% sensitivity and 100% specificity for ≤53%) and the peak LV GRS diastolic rate (AUC = 0.987, p = 0.0001, with 100% sensitivity and 88.4% specificity for >-1.27 s-1). The peak LV GRS diastolic rate was the only independent predictor of DCM (p = 0.003). Distinctive deformation patterns that were typical for each of the analysed groups existed and can help to differentiate between athlete's heart, a nonathletic heart and a dilated cardiomyopathy.

No abstract available

TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood samples were collected from 72 DCM probands, mean age of 34 years, 45.8% FDCM. DNA samples were examined by next generation sequencing (NGS) with a focus on the TTN gene. Truncating mutations were followed up by segregation study among family members. We identified 16 TTN truncating variants (TTN trunc) in 17 probands (23.6% of all cases, 30.3% of FDCM, 17.9% of sporadic DCM). During mean 63 months from diagnosis, there was no difference in adverse cardiac events between probands with and without TTN truncating mutations. Among relatives 29 mutation carriers were identified, nine were definitely affected (31%), eight probably affected (27.6%) one possibly affected (3.4%) and eleven were not affected (37.9%). When relatives with all affected statuses were combined, disease penetrance was still incomplete (62.1%) even after exclusion of unaffected relatives under 40 (82%) and was higher in males versus females. In all mutation carriers, during follow-up, 17.4% had major adverse cardiac events, and prognosis was significantly worse in men than in women. In conclusion, TTN truncating variants were observed in nearly one fourth of young DCM patient population, in vast majority without conduction system disease. Incomplete penetrance suggests possible influence of other genetic and/or environmental factors on the course of cardiotitinopathy. Counseling should take into account sex and incomplete penetrance.

Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical characteristics including serum biomarkers: high sensitivity troponin T (hsTnT) and N-terminal prohormone brain natriuretic peptide (NT-proBNP) in clinically stable cardiolaminopathy patients, and (2) outcome among pathogenic/likely pathogenic lamin A/C gene (LMNA) mutation carriers. Our single-centre cohort included 53 patients from 21 families. Clinical, laboratory, follow-up data were analysed. Median follow-up was 1522 days. The earliest abnormality, emerging in the second and third decades of life, was elevated hsTnT (in 12% and in 27% of patients, respectively), followed by the presence of atrioventricular block, heart failure, and malignant ventricular arrhythmia (MVA). In patients with missense vs. other mutations, we found no difference in MVA occurrence and, surprisingly, worse transplant-free survival. Increased levels of both hsTnT and NT-proBNP were strongly associated with MVA occurrence (HR > 13, p ≤ 0.02 in both) in univariable analysis. In multivariable analysis, NT-proBNP level > 150 pg/mL was the only independent indicator of MVA. We conclude that assessment of circulating cardiac biomarkers may help in the detection and risk assessment of cardiolaminopathies.

BAG3 gene mutations have been recently implicated as a novel cause of dilated cardiomyopathy (DCM). Our aim was to evaluate the prevalence of BAG3 mutations in Polish patients with DCM and to search for genotype-phenotype correlations.

LMNA mutations are most frequently involved in the pathogenesis of dilated cardiomyopathy with conduction disease. The goal of this study was to identify LMNA mutations, estimate their frequency among Polish dilated cardiomyopathy patients and characterize their effect both in vivo and in vitro.

The purpose of this study was to compare the ability of various parameters of myocardial mechanics to predict large amounts of biventricular fibrosis assessed via T1 mapping in patients with dilated cardiomyopathy (DCM).

Highly magnified micrographs are part of the majority of publications in materials science and related fields. They are often the basis for discussions and far-reaching conclusions on the nature of the specimen. In many cases, reviewers demand and researchers deliver only the bare minimum of micrographs to substantiate the research hypothesis at hand. In this work, we use heterogeneous poly(acrylonitrile) nanofiber nonwovens with embedded nanoparticles to demonstrate how an insufficient or biased micrograph selection may lead to erroneous conclusions. Different micrographs taken by transmission electron microscopy and helium ion microscopy with sometimes contradictory implications were analyzed and used as a basis for micromagnetic simulations. With this, we try to raise awareness for the possible consequences of cherry-picking for the reliability of scientific literature.

Cardiovascular magnetic resonance (CMR) imaging in patients with hypertrophic cardiomyopathy (HCM) enables the assessment of not only left ventricular (LV) hypertrophy and scarring but also the severity of mitral regurgitation. CMR assessment of mitral regurgitation is primarily based on the difference between LV stroke volume (LVSV) and aortic forward flow (Ao) measured using the phase-contrast (PC) technique. However, LV outflow tract (LVOT) obstruction causing turbulent, non-laminar flow in the ascending aorta may impact the accuracy of aortic flow quantification, leading to false conclusions regarding mitral regurgitation severity. Thus, we decided to quantify mitral regurgitation in patients with HCM using Ao or, alternatively, main pulmonary artery forward flow (MPA) for mitral regurgitation volume (MRvol) calculations.

In hypertrophic cardiomyopathy (HCM) patients, left ventricular (LV) maximal wall thickness (MWT) is one of the most important factors determining sudden cardiac death (SCD) risk. In a large unselected sample of HCM patients, we aimed to simulate what changes would occur in the calculated SCD risk according to the European HCM Risk-SCD calculator when MWT measured using echocardiography was changed to MWT measured using MRI. All consecutive patients with HCM who underwent cardiac MRI were included. MWT measured with echocardiography and MRI were compared, and 5-year SCD risk according to the HCM Risk-SCD calculator was computed using four different models. The final population included 673 patients [389 (57.8%) males, median age 50 years, interquartile range (36-60)]. The median MWT was lower measured by echocardiography than by MRI [20 (17-24) mm vs 21 (18-24) mm; p < 0.0001]. There was agreement between echocardiography and MRI in the measurement of maximal LV wall thickness in 96 patients (14.3%). The largest differences between echo and MRI were - 13 mm and + 9 mm. The differences in MWT by echocardiography and MRI translated to a maximal difference of 8.33% in the absolute 5-year risk of SCD, i.e., the echocardiography-based risk was 8.33% lower than the MRI-based estimates. Interestingly, 13.7% of patients would have been reclassified into different SCD risk categories if MRI had been used to measure MWT instead of echocardiography. In conclusion, although there was high general intermodality agreement between echocardiography and MRI in the MWT measurements, the differences in MWT translated to significant differences in the 5-year risk of SCD.

Peripartum (PPCM) and dilated (DCM) cardiomyopathies are distinct forms of cardiac disease that share certain aspects in clinical presentation.