Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Calcific aortic valve stenosis (CAVS) is a common and life-threatening heart disease and the current treatment options cannot stop or delay its progression. A GWAS on 1009 cases and 1017 ethnically matched controls was combined with a large-scale eQTL mapping study of human aortic valve tissues (n = 233) to identify susceptibility genes for CAVS. Replication was performed in the UK Biobank, including 1391 cases and 352,195 controls. A transcriptome-wide association study (TWAS) reveals PALMD (palmdelphin) as significantly associated with CAVS. The CAVS risk alleles and increasing disease severity are both associated with decreased mRNA expression levels of PALMD in valve tissues. The top variant identified shows a similar effect and strong association with CAVS (P = 1.53 × 10) in UK Biobank. The identification of PALMD as a susceptibility gene for CAVS provides insights into the genetic nature of this disease, opens avenues to investigate its etiology and to develop much-needed therapeutic options.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840407 | PMC |
| http://dx.doi.org/10.1038/s41467-018-03260-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[The TAVI heart team].
Herz
September 2025
Department of Cardiology, Heart Center Leipzig, University of Leipzig, Strümpellstraße 39, 04289, Leipzig, Deutschland.
Since the earliest studies on transcatheter aortic valve implantation (TAVI), the heart team concept has been an integral component of treatment planning for patients with aortic valve stenosis (AS). The primary objective is to ensure patient-specific, guideline-based treatment through the structured involvement of all relevant medical disciplines. The TAVI heart team is strongly recommended with a class I indication in both European and US clinical guidelines.
View Article and Find Full Text PDFManagement of asymptomatic severe aortic stenosis: a systematic review and meta-analysis of randomized controlled trials.
Minerva Cardiol Angiol
September 2025
Norwich Medical School, Bob Champion Research and Education, Rosalind Franklin Road, Norwich, UK -
Introduction: Whilst aortic stenosis remains the most prevalent valvular abnormality, the management of asymptomatic severe aortic stenosis remains a clinical challenge. Recently, two randomised-controlled trials (RCTs) - EVOLVED (Early Intervention in Patients With Asymptomatic Severe Aortic Stenosis and Myocardial Fibrosis) and Early TAVR (Transcatheter Aortic-Valve Replacement for Asymptomatic Severe Aortic Stenosis) - have been published, alongside an extended follow-up from the AVATAR (Aortic Valve Replacement Versus Conservative Treatment in Asymptomatic Severe Aortic Stenosis) study.
Evidence Acquisition: In response, we conducted a systematic review of PubMed, Ovid, and Cochrane databases, identifying RCTs up to October 29, 2024, that compared early intervention with conventional management.
Modified Park's Stitch Using Initial Systematic Cusp Alignment in Patients With Left Ventricular Assist Device.
ASAIO J
September 2025
From the Department of Cardiac Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
We describe a modified Park's stitch technique incorporating systematic free margin alignment to achieve complete elimination of aortic regurgitation in patients with a left ventricular assist device. The technique involves a two-step approach: first, free margin alignment of all three cusps using single interrupted 6-0 polypropylene sutures placed at the nodules of Arantius to achieve precise coaptation, followed by conventional Park's stitch using mattress sutures with autologous pericardial pledgets for central closure. The alignment sutures remain in place to provide reinforcement.
View Article and Find Full Text PDFEpigenetic dysregulation of energy homeostasis drives aortic valve stenosis that is treatable with metformin.
JCI Insight
September 2025
Division of Cardiovascular Medicine, Department of Medicine.
Aortic valve stenosis is a progressive and increasingly prevalent disease in older adults, with no approved pharmacologic therapies to prevent or slow its progression. Although genetic risk factors have been identified, the contribution of epigenetic regulation remains poorly understood. Here, we demonstrated that histone deacetylase 3 (HDAC3) maintains aortic valve structure by suppressing mitochondrial biogenesis and preserving extracellular matrix integrity in valvular interstitial fibroblasts.
View Article and Find Full Text PDFManagement of the dissected aortic root in young patients: A propensity score-matched analysis of mechanical versus bioprosthetic aortic root replacement.
JTCVS Open
August 2025
Division of Cardiovascular Surgery, Department of Surgery, University of Pennsylvania, Philadelphia, Pa.
Objective: Valve selection in acute type A aortic dissection (ATAAD) requiring aortic root replacement is challenging given the clinical acuity, unknown patient preferences, risk of surgical bleeding, and limited life expectancy. We sought to identify long-term outcomes of mechanical versus bioprosthetic aortic root replacement in young patients with ATAAD.
Methods: Retrospective review of our institution's database of ATAAD was conducted to identify patients aged 65 years and younger who underwent mechanical Bentall (mech-Bentall) or bioprosthetic Bentall (bio-Bentall) for ATAAD from 2002 to 2022.