Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys, and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.

Introduction: The knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (hATTR-CA) is scant.

Objectives: Our aim was to present rare transthyretin (TTR) gene variants and diagnostic difficulties in patients with hATTR-CA.

Patients And Methods: In the years 2018-2024, 252 consecutive patients with suspected CA were evaluated, including blood tests, standard 12‑lead electrocardiography, transthoracic echocardiography and 99mtechnetium‑3,3‑diphosphono‑1,2‑propanodicarboxylic acid ([99mTc]Tc‑DPD) scintigraphy.

Position statement of Polish Cardiac Society experts on cardiomyopathy.

Cardiomyopathies (CMs) are a very broad group of diseases, including genetically determined and acquired, and their classification is based on phenotypic characteristics. There is always a need to search for the etiology (often also to try to identify the genetic cause), which may determine the appropriate choice of clinical management. The geographical distribution of genetic variants varies as does the prevalence across populations, ethnic groups, regions, and countries.

Impact of Cardiac Magnetic Resonance on the Diagnosis of Left Ventricular Noncompaction-A 15-Year Experience.

The aim of this study was to assess the impact of cardiac magnetic resonance (CMR) on the diagnosis in patients with known or suspected left ventricular noncompaction (LVNC). We retrospectively reviewed the medical charts of 12,811 consecutive patients who had CMR studies between 2008 and 2022 in a large tertiary center. We included patients referred for CMR because of known or suspected LVNC.

Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience.

Background: Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.

Aims: This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM.

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and fatal condition that requires early diagnosis, management, and specific treatment. The availability of new disease-modifying therapies has made successful treatment a reality. Transthyretin amyloid cardiomyopathy can be either age-related (wild-type form) or caused by mutations in the TTR gene (genetic, hereditary forms).

Diagnosis and treatment of transthyretin amyloidosis cardiomyopathy: A position statement of the Polish Cardiac Society.

Considering the rare incidence of transthyretin amyloidosis cardiomyopathy (ATTR-CM) in Poland, patients encounter difficulties at the stages of diagnosis and treatment. For successful diagnosis, it is vital to raise the suspicion of ATTR-CM, that is, to identify typical clinical scenarios such as heart failure with preserved ejection fraction or the red flags of amyloidosis. In most cases, it is possible to establish the diagnosis on the basis of noninvasive tests.

The scintigraphic diagnosis of cardiac amyloidosis. An expert opinion endorsed by the Section of Nuclear Medicine of the Polish Cardiac Society and the Polish Nuclear Medicine Society.

Amyloid transthyretin cardiomyopathy is a progressive disease that confers significant mortality. While it is relatively rare, the frequency of diagnoses has risen with the increased contribution of novel diagnostic approach over the last decade. Traditionally tissue biopsy was considered to be a gold standard for amyloidosis diagnosis.

Role of cardiac magnetic resonance in heart failure of initially unknown etiology: A 10-year observational study.

Background: The heart failure (HF) population is estimated to be 64.3 million people worldwide and continues to grow. Identifying the underlying cause of HF is crucial for patient management and prognosis.

Cardiovascular Magnetic Resonance in Peripartum Cardiomyopathy: Comparison with Idiopathic Dilated Cardiomyopathy.

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

Aim: We hypothesized that different cardiac structural changes underlie PPCM and DCM, and we aimed to investigate them with cardiovascular magnetic resonance (CMR).

Methods: We included 21 PPCM patients (30.

Neuro-Inspired Signal Processing in Ferromagnetic Nanofibers.

Computers nowadays have different components for data storage and data processing, making data transfer between these units a bottleneck for computing speed. Therefore, so-called cognitive (or neuromorphic) computing approaches try combining both these tasks, as is done in the human brain, to make computing faster and less energy-consuming. One possible method to prepare new hardware solutions for neuromorphic computing is given by nanofiber networks as they can be prepared by diverse methods, from lithography to electrospinning.

Sudden cardiac death risk in hypertrophic cardiomyopathy: comparison between echocardiography and magnetic resonance imaging.

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.

Deformation Parameters of the Heart in Endurance Athletes and in Patients with Dilated Cardiomyopathy-A Cardiac Magnetic Resonance Study.

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).

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Background: Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients.

Galectin-3 plasma levels in adult congenital heart disease and the pressure overloaded right ventricle: reason matters.

To assess galectin-3 (Gal-3) levels and their relationship with clinical status and right ventricular (RV) performance in adults with RV pressure overload of various mechanisms due to congenital heart disease. A cross-sectional study was conducted. Patients underwent clinical examination, blood testing and transthoracic echocardiography.

On the reliability of highly magnified micrographs for structural analysis in materials science.

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.

Impact of cardiac magnetic resonance on the diagnosis of hypertrophic cardiomyopathy - a 10-year experience with over 1000 patients.

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

Methods: All MRI studies of patients with HCM or suspected disease performed at our centre within a 10-year time period were evaluated. Initial diagnoses (echocardiography-based) and final (MRI-based) diagnoses were compared in subgroups, and the discrepancies were recorded.

Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.

Background: Transthyretin amyloidosis (ATTR) is a rare, life-threatening systemic disorder. We present first findings on the cardiac hereditary ATTR in Poland.

Methods: Sixty-eight consecutive patients with suspected or known cardiac amyloidosis were evaluated, including blood tests, standard 12-lead electrocardiography (ECG) and transthoracic echocardiography.

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of Mutation Carriers?

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 ( mutation carriers. Our single-centre cohort included 53 patients from 21 families.

A different background of arrhythmia in siblings with a positive family history of sudden death at young age.

We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25-year-old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal muscle weakness were found.