Rare diseases mostly have a genetic cause. Many rare cardiovascular diseases also have a genetic cause. For target-oriented cardiogenetic diagnostics, expert knowledge in human genetics as well as in clinical cardiology is needed. In recent years, the genetic cause of a number of heart diseases have been, at least in part, elucidated. Especially, certain arrhythmias and cardiomyopathy forms have a monogenetic cause. An early genetic diagnosis means that patients can be treated more effectively. Rare storage diseases also usually have a genetic cause and can manifest themselves in the heart; prominent examples are Fabry disease and amyloidosis. As patients with Fabry disease or amyloidosis suffer from a diverse and variable symptomatology, the correct diagnosis is often difficult.
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Metagenomic Analysis of Gut Microbiota for Abdominal Aortic Aneurysm.
Ann Vasc Dis
January 2025
Division of Cardiovascular Medicine, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.
Article Synopsis
- The study explores the unclear mechanisms behind abdominal aortic aneurysm (AAA) by analyzing gut microbiota in fecal samples from patients with AAA and healthy controls.
- It was found that patients with AAA had higher levels of certain oral bacteria and lower levels of bacterial genes associated with alpha lipoic acid (ALA) biosynthesis in their feces.
- These findings suggest potential for developing gut microbiome-based treatments for AAA, highlighting the role of gut bacteria in the condition's pathophysiology.
A European Delphi Consensus on the Management of Abdominal Aortic Aneurysms in Patients with Heritable Aortic Diseases.
Eur J Vasc Endovasc Surg
January 2025
Universitat Autònoma de Barcelona (UAB), Bellaterra, Spain; Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain; Department of Vascular, Endovascular Surgery and Angiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:
Objective: Abdominal aortic aneurysm (AAA) in a patient with an underlying heritable aortic disease (HAD) is rare, and evidence based recommendations for its management are lacking. This study aimed to generate a consensus from multidisciplinary specialists on the diagnosis, treatment, and surveillance of AAA associated with HAD and to define topics of interest for future research.
Methods: A Delphi consensus was designed involving European multidisciplinary specialists and reported using the ACcurate COnsensus Reporting Document (ACCORD) reporting guideline.
Real-World Impact of Olaparib Exposure in Advanced Pancreatic Cancer Patients Harboring Germline BRCA1-2 Pathogenic Variants.
Cancer Med
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Department of Medical Oncology, IRCCS Ospedale San Raffaele, Milan, Italy.
Introduction: Pancreatic cancer arising in the context of BRCA predisposition may benefit from poly(ADP-ribose) polymerase inhibitors. We analyzed real-world data on the impact of olaparib on survival in metastatic pancreatic cancer patients harboring germline BRCA mutations in Italy, where olaparib is not reimbursed for this indication.
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Lipid-Lowering and Antihypertensive Drugs on Aortic Disease Risk: Insights from Mendelian Randomization Analysis and Real-World Pharmacovigilance Data.
Eur Heart J Cardiovasc Pharmacother
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Department of vascular surgery, the Second Affiliated Hospital of Nanchang University, No. 1 Minde Road, Nanchang, Jiangxi, China, 330006.
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Inhibition of vascular smooth muscle cell PERK/ATF4 ER stress signaling protects against abdominal aortic aneurysms.
JCI Insight
January 2025
Section of Vascular Surgery, Department of Surgery, and.
Abdominal aortic aneurysms (AAA) are a life-threatening cardiovascular disease for which there is a lack of effective therapy preventing aortic rupture. During AAA formation, pathological vascular remodeling is driven by vascular smooth muscle cell (VSMC) dysfunction and apoptosis, for which the mechanisms regulating loss of VSMCs within the aortic wall remain poorly defined. Using single-cell RNA-Seq of human AAA tissues, we identified increased activation of the endoplasmic reticulum stress response pathway, PERK/eIF2α/ATF4, in aortic VSMCs resulting in upregulation of an apoptotic cellular response.
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