Int J Mol Sci
December 2024
Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.
View Article and Find Full Text PDFThe review is devoted to molecular genetic factors of hemostasis system in assessing the risk of arterial and venous thrombosis in microvascular surgery. In modern reconstructive surgery, one can trace a tendency towards preoperative management taking into account molecular-genetic risk factors of hemostatic disorders for prevention of intravascular thrombosis. The importance of multidisciplinary concept in prevention is undeniable.
View Article and Find Full Text PDFBr J Dermatol
October 2024
Biochem Biophys Res Commun
June 2024
Here, we characterized the p.Arg583His (R583H) Kv7.1 mutation, identified in two unrelated families suffered from LQT syndrome.
View Article and Find Full Text PDFBrugada syndrome (BrS) is an inherited disease characterized by right precordial ST-segment elevation in the right precordial leads on electrocardiograms (ECG), and high risk of life-threatening ventricular arrhythmia and sudden cardiac death (SCD). Mutations in the responsible genes have not been fully characterized in the BrS patients, except for the SCN5A gene. We identified a new genetic variant, c.
View Article and Find Full Text PDFWe characterized a novel genetic variant c.292G > A (p.E98K) in the gene encoding cardiac tropomyosin 1.
View Article and Find Full Text PDFA 60-year-old male with hypertrophic cardiomyopathy, conduction disorders, post-COVID-19 myopericarditis and heart failure was admitted to the hospital's cardiology department. Blood tests revealed an increase in CPK activity, troponin T elevation and high titers of anticardiac antibodies. Whole exome sequencing showed the presence of the pathogenic variant NM_213599:c.
View Article and Find Full Text PDFHypertrophic cardiomyopathy (HCM), caused by mutations in thin filament proteins, manifests as moderate cardiac hypertrophy and is associated with sudden cardiac death (SCD). We identified a new de novo variant, c.656A>T (p.
View Article and Find Full Text PDFBrugada syndrome (BrS) is an inherited cardiac arrhythmia characterized by ST-elevation, negative T-wave, and a high risk of sudden cardiac death (SCD) due to ventricular tachycardia. It is associated with mutations in over 20 genes but only is recommended for routine genetic screening. This study was performed to estimate diagnostic yield and pathogenicity assessment of rare genetic variants in the genes encoding Nav1.
View Article and Find Full Text PDFThe same variants in sarcomeric genes can lead to different cardiomyopathies within the same family. This gave rise to the concept of a continuum of sarcomeric cardiomyopathies. However, the manifestations and evolution of these cardiomyopathies in pathogenic variant carriers, including members of the same family, remains poorly understood.
View Article and Find Full Text PDFWe identified a single nucleotide variation (SNV) (c.1264A > G) in the KCNQ1 gene in a 5-year-old boy who presented with a prolonged QT interval. His elder brother and mother, but not sister and father, also had this mutation.
View Article and Find Full Text PDFBackground: Chordal apparatus preservation is important for preserving left ventricular (LV) function in the long-term perspective. We present results of originally modified chordal-sparing mitral valve replacement (MVR) successfully used in patients with mitral stenosis and mitral insufficiency.
Methods: The modified surgical method involves preserving only four strut chords with portions of the mitral valve leaflets, which are later fixed to the fibrous ring.
A 28 year-old male with restrictive cardiomyopathy (RCM) and endocardium thickening, conduction disorders, heart failure, and depressive disorder treated with paroxetine was admitted to the clinic. Blood tests revealed an increase in serum iron level, transferrin saturation percentage, and slightly elevated liver function tests. Sarcoidosis, storage diseases and Loeffler endocarditis were ruled out.
View Article and Find Full Text PDFBackground: The gene encodes inward rectifier Kir2.1 channels, maintaining resting potential and cell excitability. Presumably, clinical phenotypes of mutation carriers correlate with ion permeability defects.
View Article and Find Full Text PDFPrimary cardiac channelopathies are a group of diseases wherein the role of DNA testing in aiding diagnosis and treatment-based decision-making is gaining increasing attention. However, in some cases, evaluating the pathogenicity of new variants is still challenging. We report an accurate multistage assessment of a rare genetic variant in the gene using next-generation sequencing (NGS) techniques and Sanger sequencing.
View Article and Find Full Text PDFCommon diagnostic approach in patients with suspected cardiac amyloidosis includes cardiac magnetic resonance imaging and scintigraphy. We report the first clinical case of false-positive results of scintigraphy in a patient with Danon disease.
View Article and Find Full Text PDFThe authors report the diagnosis and surgical treatment of 5 patients with dilated phase of hypertrophic cardiomyopathy (HCM). Features of these patients are progressive heart failure, double-level blood flow obstruction and the risk of apical aneurysms. Reconstructive remodeling surgery is a reasonable alternative to heart transplantation despite the existing risk.
View Article and Find Full Text PDFPrimary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics of cardiomyopathies. However, the diagnostic yield of genetic testing for each subtype of CMP fails to exceed 60%.
View Article and Find Full Text PDFHypertrophic cardiomyopathy (HCM) is the most common inherited disease, with a prevalence of 1:200 worldwide. The cause of HCM usually presents with an autosomal dominant mutation in the genes encoding one of more than 20 sarcomeric proteins, incomplete penetrance, and variable expressivity. HCM classically manifests as an unexplained thickness of the interventricular septum (IVS) and left ventricular (LV) walls, with or without the obstruction of the LV outflow tract (LVOT), and variable cardiac arrhythmias.
View Article and Find Full Text PDFIntroduction: Commonly accepted clinical classification of arrhythmogenic right ventricular cardiomyopathy (ARVC) is still not developed.
Objective: To study the clinical forms of ARVC.
Methods: Fifty-four patients (38.
Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the gene. Patients with ATS present with episodes of muscle weakness, arrythmias, including prolonged QT intervals, and various skeletal abnormalities.
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