Andersen-Tawil syndrome (ATS) is caused by mutations in KCNJ2 (Kir2.1). It remains unclear whether dilated cardiomyopathy (DCM) is a primary feature of ATS. We studied a proband with typical physical features of ATS plus DCM and moderate to severe left ventricular dysfunction (left ventricular ejection fraction = 30.5%). Genetic screening revealed a novel mutation in Kir2.1 (c.665T>C, p.L222S). Functional studies showed that this mutation reduced ionic currents in a dominant-negative manner. Suppression of ventricular arrhythmias with bisoprolol led to normalization of left ventricular size and function. We conclude that DCM is likely a secondary phenotype in ATS and is caused by high ventricular arrhythmia burden.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.cjca.2016.07.587 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Apixaban Anticoagulation in HeartMate 3 Left Ventricular Assist Device: A Meta-Analysis of Randomized Controlled Trials.
ASAIO J
January 2025
From the Intensive Cardiac Care Unit, Cardiology Department, Rangueil University Hospital, Toulouse, France.
Assessment of hemodynamic disturbances and impaired ventricular filling in asymptomatic fontan patients: A 4D flow CMR study.
Eur J Radiol Open
June 2025
Department of Radiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dong Fang Road, Shanghai 200127, PR China.
Background: The Fontan procedure is a surgical intervention designed for patients with single ventricle physiology, wherein the systemic venous return is redirected into the pulmonary circulation, thereby facilitating passive pulmonary blood flow without the assistance of ventricular propulsion. Consequently, long-term follow-up of individuals who have undergone the asymptomatic Fontan procedure is essential.
Objectives: The aims of this investigation were to: 1) examine the impact of flow components and kinetic energy (KE) parameters on hemodynamic disturbances in asymptomatic Fontan patients and control group; 2) Assess left ventricular diastolic dysfunction through the analysis of 4D flow parameters across different Fontan sub-groups; 3) Compare intracardiac flow parameters among Fontan sub-groups based on morphological features of the left ventricle (LV) and right ventricle (RV).
Epicardial fat tissue, a hidden enemy against the early recovery of left ventricular systolic function after transcatheter aortic valve implantation.
Int J Cardiol Heart Vasc
February 2025
Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands.
Background: Epicardial fat tissue (EFT) is an active organ that can affect cardiac function and structure through endocrine, paracrine, and proinflammatory mechanisms. We hypothesized that greater thickness of EFT may harm the recovery of left ventricular (LV) systolic function in patients with severe aortic stenosis (AS) and reduced LV ejection fraction (EF ≤ 50 %) undergoing transcatheter aortic valve implantation (TAVI).
Methods: A sixty six patients with severe AS and 20 % ≥ LVEF ≤ 50 % who underwent TAVI were included.
PDA-associated infective endocarditis with pulmonary artery perforation.
Pak J Med Sci
January 2025
Muhammad Ali Mumtaz, MD FACS. Tahir Heart Institute, Fazl-e-Omar Hospital, Chenab Nagar, District Chiniot, Pakistan.
Infective endocarditis used to frequently cause mortality in subjects having PDA before the advent of antibiotics and surgical ligation. It has been documented that clinically silent PDAs may cause infective complications of heart valves. We present case of an 18-years-old male who presented with palpitations and fever to our emergency department.
View Article and Find Full Text PDFRisk factors analysis and nomogram model construction for postoperative atrial fibrillation after off-pump coronary artery bypass grafting.
Pak J Med Sci
January 2025
Zhuqing Ji Department of Medicine Oncology, The Affiliated Huai'an 1st People's Hospital of Nanjing Medical University, Huaian, Jiangsu Province 223300, P.R. China.
Objective: To explore the risk factors associated with postoperative atrial fibrillation (POAF) after off-pump coronary artery bypass grafting (OPCABG) and to construct a nomogram predictive model.
Methods: In this retrospective cohort study, clinical data of 193 patients who received OPCABG in Huai'an First People's Hospital Affiliated to Nanjing Medical University from June 2021 to November 2023 were retrospectively analyzed. Based on the established diagnosis of POAF, patients were divided into the POAF group (n=75) and the non-POAF group (n=118).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!