ABSTRACT
The aim of the study was to investigate the relationship between a decrease in the left ventricular ejection fraction (EF) and traditional ECG signs associated with structural changes of the myocardium (pathological Q wave, ventricular arrhythmias) and relatively new and poorly understood (fragmented QRS complex (fQRS), early repolarization pattern (ERP)) and evaluate their significance for identifying patients with mildly reduced EF (mrEF). The study included 148 patients who were treated and examined at the Almazov Medical Research Center. FQRS, ERP, pathological Q wave, and premature ventricular contractions (PVC) were described in the analysis of the ECG, and the results of echocardiography and statistical data were analyzed: Fisher's test and chi-square, correlation analysis, and ROC analysis. According to the level of EF, patients were divided into three groups: group 1-patients with low EF (lEF) (less than 40%), group 2-patients with mildly reduced EF (mrEF) (40-49%); group 3-patients with preserved EF (pEF) (more than 50%). In the first group (EF), fQRS was registered in 16 (51.6%) patients, in the mrEF in 16 (18.2%). Pathological Q wave was detected in lEF in 20 (65%), in mrEF in 10 (35%), 15 (18%), in pEF in 15 (18%). The fQRS has been found to be more important in identifying patients with mrEF. In lEF in 2 (6.5%) patients, in mrEF in 2 (6.9%), in pEF in 11 (12.5%). There was no relationship between ERP, the amount of PVC, and the presence of ventricular tachycardia with EF. FQRS is significantly more common occurred with a decrease in EF and may be a marker of a mrEF. Thus, fQRS is associated with mrEF and pay close attention in routine clinical practice to identify patients at high risk of developing systolic dysfunction.
ABSTRACT
"Heart-hand" type syndromes represent a group of rare congenital conditions that combine cardiac pathology (structural defect or arrhythmic disorder) and limb abnormality. Significant clinical variability and genetic heterogeneity typical for such syndromes complicate correct diagnosis, prognosis, and appropriate genetic counseling of the affected families. By now, only single genes have been unambiguously determined as a genetic cause of heart-hand syndromes and phenotypically similar conditions. In the present study, we report on a 25-year-old Russian female patient with a clinical picture resembling ulnar-mammary syndrome (UMS). Principal clinical manifestations included heart septal fibrosis and non-sustained left ventricular tachycardia combined with fifth finger camptodactyly, hypoplastic breast, abnormal teeth, and mental retardation. Target Sanger sequencing and array-based comparative genome hybridization confirmed the lack of pathogenic mutations and large-scale deletions in TBX3 (12q24.21), the only gene known to be associated with UMS cases to date. Based on the results of whole-exome sequencing, 14 potential candidate variants were identified. Among them, a novel missense variant in SYNM gene (exon 1, c.173C > T, p.A58V), encoding intermediate filament protein synemin was characterized. Until the present, no association between SYNM mutations and congenital clinical syndromes has been reported. At the same time, taking into account synemin tissue-specific expression profiles and available data on abnormal knock-out mice phenotypes, we propose SYNM as a candidate gene contributing to the UMS-like phenotype. Further comprehensive functional studies are required to evaluate possible involvement of SYNM in genesis of complex heart-limb pathology.
ABSTRACT
Aims: Right ventricular outflow tract (RVOT) dilation is one of the echocardiographic criteria in the 2010 revised Task Force Criteria (TFC) of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). However, studies comparing cardiac magnetic resonance (CMR) and transthoracic echocardiography (TTE) suggest a lower diagnostic accuracy of TTE due to its operator dependence and limited reproducibility. The goal of this study was to compare the 2010 TFC measures of RVOT dilation with three alternative measures for improving the echocardiographic assessment of RVOT in patients with ARVC/D. Methods and results: In this multicentre study, CMR and TTE were performed in 38 patients with a definite, borderline, or possible ARVC/D diagnosis and in 10 healthy controls. Besides the echocardiographic RVOT measurements listed by the 2010 TFC, we assessed three additional end-diastolic RVOT diameters. These included the RVOT diameter defined by the parasternal long axis M-mode of the aortic sinus portion (RVOT3), that defined by the parasternal long axis M-mode of the left ventricle (RVOT4), and that obtained by the parasternal short axis view of the distal RVOT proximal to the pulmonary valve (RVOT5). RVOT4 provided the best correlation between CMR and TTE (r = 0.92, [95% confidence interval (CI): 0.84-0.96; P < 0.0001]) and enhanced diagnostic accuracy for diagnosing ARVC/D (area under the curve 0.92 [95% CI, 0.78-0.98]). Conclusion: Among all RVOT diameters examined, that defined by the parasternal long axis M-mode of the left ventricle (RVOT4) provides the best agreement between CMR and TTE and exhibits the best diagnostic accuracy for ARVC/D. This novel RVOT4 measurement carries the potential for improving the echocardiographic diagnosis of ARVC/D.
