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According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients.
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http://dx.doi.org/10.33963/v.phj.101365 | DOI Listing |
Eur J Heart Fail
September 2025
Cardiology Department, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Aims: There is a lack of data from randomized clinical trials comparing treatment outcomes between conduction system pacing (CSP) modalities and biventricular pacing (BVP) in symptomatic patients with refractory atrial fibrillation (AF) scheduled for atrioventricular node ablation (AVNA). The CONDUCT-AF investigates whether CSP is non-inferior to BVP in improving left ventricular ejection fraction (LVEF) and clinical outcomes in heart failure (HF) patients with symptomatic AF undergoing AVNA.
Methods: This study is an investigator-initiated, prospective, randomized, multicentre clinical trial conducted across 10 European centres, enrolling 82 patients with symptomatic AF, HF with reduced LVEF, and narrow QRS.
JAMA Netw Open
September 2025
Department of Epidemiology, University of Texas Health Science Center at Houston School of Public Health, Houston.
Importance: Trisomy 13 (T13) and trisomy 18 (T18) are chromosomal abnormalities with high mortality rates in the first year of life. Understanding differences in long-term survival between children with full vs mosaic or partial trisomy is crucial for prognosis and health care planning.
Objective: To examine the differences in 10-year survival between children with full T13 and T18 vs those with mosaic or partial trisomy.
JAMA Netw Open
September 2025
Division of Cardiology, Department of Internal Medicine, New Taipei Municipal TuCheng Hospital, New Taipei, Taiwan.
Importance: The cardiovascular benefits of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) may vary by body mass index (BMI), but evidence on BMI-specific outcomes remains limited.
Objective: To investigate the associations of GLP-1 RA use with cardiovascular and kidney outcomes across BMI categories in patients with type 2 diabetes.
Design, Setting, And Participants: This retrospective cohort study used the Chang Gung Research Database, a clinical dataset covering multiple hospitals in Taiwan.
Multimed Man Cardiothorac Surg
September 2025
Department of Cardiothoracic Surgery, Royal Children’s Hospital, Melbourne, Australia
The patient had rheumatic heart disease, which resulted in severe aortic and mitral valve regurgitation. Repair of both valves was performed at 9 years of age. During surgery, the retracted aortic valve cusps required extension with bovine pericardial patches and suture reduction annuloplasty, and the mitral valve was repaired using a Cosgrove-Edwards (Edwards Lifesciences LLC, Irvine, CA) annuloplasty band.
View Article and Find Full Text PDFEchocardiography
September 2025
Department of Cardiology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Objectives: To explore the relationships between cardiac parameters and body composition indices, identifying predictors of subclinical cardiac systolic dysfunction.
Methods: Using anthropometric and serological parameters, echocardiography, and body composition analysis, this study evaluated metabolic profiles, cardiac remodeling patterns, and body composition characteristics in young adult obese patients, while quantifying the correlations between cardiac parameters and body composition indices. Subclinical left ventricular systolic dysfunction was defined as global longitudinal strain (GLS) < 18%.