Background: RING finger protein 213 () p.R4810K is an established risk factor for moyamoya disease and intracranial artery stenosis in East Asian people. Recent evidence suggests its potential association with extracranial cardiovascular diseases, including pulmonary hypertension. We hypothesized that insidious abnormal cardiac functions are detected in p.R4810K carriers with cerebrovascular diseases.
Methods And Results: We investigated patients registered in the National Cerebral and Cardiovascular Center Genome Registry between May 2017 and August 2021 who underwent echocardiography. All patients had cerebrovascular diseases. Patients with a medical history of chronic heart or pulmonary diseases were excluded. p.R4810K was genotyped in all the patients. Of 2089 patients registered in the registry, 71 carriers and 1241 noncarriers were eligible for our analyses. The carriage of p.R4810K emerged as a significant predictor for longer right ventricular outflow tract acceleration time in multivariable linear regression analysis (β=8.33 [95% CI, 0.92-15.74]; =0.028). Additionally, the carriers showed increased odds of having right ventricular outflow tract acceleration time values ≥150 milliseconds (odds ratio, 2.22 [95% CI, 1.18-4.18]; =0.014) in multivariable logistic regression analysis.
Conclusions: A longer right ventricular outflow tract acceleration time may reflect an increased pulmonary vascular bed induced by abnormal vascular collateral networks and dilation of capillary vessels in peripheral pulmonary arteries in the preclinical stage of -related pulmonary hypertension. Thus, the right ventricular outflow tract acceleration time marker in p.R4810K carriers suggests a biphasic course from the presymptomatic to symptomatic phase. Furthermore, vascular neurologists should carefully examine multiple organs because -related vasculopathy covers systemic cardiovascular diseases.
Registration: URL: https://www.umin.ac.jp; Unique identifier: UMIN000050750.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1161/JAHA.124.036333 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A case report of a rare cardiac anomaly associated with Ellis-van Creveld syndrome: common atrium, partial atrioventricular septal defect, and hypoplastic left ventricle.
Eur Heart J Case Rep
January 2025
Department of Pediatric Cardiology, Osaka Women's and Children's Hospital, Izumi, Osaka 594-1101, Japan.
Background: A partial atrioventricular septal defect (AVSD) with a hypoplastic left ventricle and common atrium is a rare combination of cardiac anomalies that can be associated with Ellis-van Creveld (EVC) syndrome.
Case Summary: A female neonate with EVC syndrome was diagnosed with an unbalanced AVSD and hypoplastic left ventricle. Pulmonary artery banding and ductus ligation were performed at 23 days after birth.
The crucial role of 18F-fluorodeoxyglucose positron emission tomography/computed tomography in diagnosing pulmonary valve endocarditis in patients after transcatheter pulmonary valve implantation: a case report.
Eur Heart J Case Rep
January 2025
Department of Cardiology, Azorg, Merestraat 80, 9300 Aalst, Belgium.
Background: Patients after transcatheter pulmonary valve implantation (TPVI) are at increased risk for infective prosthetic valve endocarditis. Diagnosis of infective endocarditis (IE) following TPVI is particularly difficult due to impaired visualization of the transcatheter pulmonary valve (TPV) with echocardiography [Delgado V, Ajmone Marsan N, de Waha S, Bonaros N, Brida M, Burri H, et al. 2023 ESC guidelines for the management of endocarditis.
View Article and Find Full Text PDFModel-Informed Recommendation of Mavacamten Posology for Chinese Adults With Obstructive Hypertrophic Cardiomyopathy.
CPT Pharmacometrics Syst Pharmacol
January 2025
Huashan Hospital, Fudan University, Shanghai, China.
Mavacamten is a cardiac myosin inhibitor for adults with obstructive hypertrophic cardiomyopathy (HCM). Dose optimization is performed 4 weeks after starting mavacamten, guided by periodic echo measurements of Valsalva left ventricular outflow tract gradient (VLVOTg) and left ventricular ejection fraction (LVEF). Previously, a population pharmacokinetic (PPK) model was developed and exposure-response (E-R) of VLVOTg (efficacy) and LVEF (safety) was used to identify the mavacamten titration regimen with the optimal benefit/risk ratio, now included in the US prescribing information.
View Article and Find Full Text PDFDetermining the QRS axis: visual estimation is equal to calculation.
Herzschrittmacherther Elektrophysiol
January 2025
Hannover Heart Rhythm Center, Department of Cardiology & Angiology, Hannover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.
Background: The QRS axis of the electrocardiogram (ECG) is often considered in clinical practice, but its determination is frequently limited to a rough estimation, such as "normal", with left or right deviation, and superior or inferior in the case of premature ventricular complexes (PVCs). However, a more exact determination of the QRS axis may be warranted in certain scenarios, such as to determine the origin of PVCs more precisely, and is attainable by visual estimation using the hexaxial reference system.
Objectives: The aim of this study was to determine how well such an estimation of the QRS axis would correlate with the axis calculated by formulas.
Background: RING finger protein 213 () p.R4810K is an established risk factor for moyamoya disease and intracranial artery stenosis in East Asian people. Recent evidence suggests its potential association with extracranial cardiovascular diseases, including pulmonary hypertension.
View Article and Find Full Text PDFWant 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!