A5029123926- Aortic Disease and Treatment Approaches
- Connective tissue disorders research
- Cardiac Valve Diseases and Treatments
- Congenital Heart Disease Studies
- Aortic aneurysm repair treatments
- Peripheral Artery Disease Management
- Cardiovascular Issues in Pregnancy
- Cardiac Structural Anomalies and Repair
- Dermatological and Skeletal Disorders
- Cardiac Imaging and Diagnostics
- Skin and Cellular Biology Research
- COVID-19 and healthcare impacts
- Cardiovascular and Diving-Related Complications
- Cardiovascular Function and Risk Factors
- Tracheal and airway disorders
- Ultrasound in Clinical Applications
- Kawasaki Disease and Coronary Complications
- Cellular Mechanics and Interactions
- Radiation Dose and Imaging
- Cerebrovascular and Carotid Artery Diseases
- Protein Tyrosine Phosphatases
- Adolescent and Pediatric Healthcare
- Health Promotion and Cardiovascular Prevention
- Migraine and Headache Studies
- Maternal and fetal healthcare
Rigshospitalet
2022-2025
Ghent University Hospital
2013-2024
Copenhagen University Hospital
2022-2023
Ghent University
2013
Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder with involvement of the skin, retina, and cardiovascular system. Cardiovascular mainly characterized by mineralization fragmentation elastic fibers blood vessels premature atherosclerosis. We conducted ultrasound study to investigate phenotype propose recommendations for management patients PXE heterozygous ABCC6 mutation carriers.Thirty-two patients, 23 carriers, 28 healthy volunteers underwent cardiac...
Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant overlap between H-TAD entities and the absence discriminating features in cases. Therefore panel multiple has emerged preferred approach. So far, no data on mutation detection rate with this technique have been reported. We...
Patients with adult congenital heart disease (ACHD) are a potentially vulnerable patient cohort in case of COVID-19. Some cardiac defects may be associated poor COVID-19 outcome. Risk estimation ACHD is currently based on expert opinion. The aim this study was to collect clinical outcome data and identify risk factors for complicated course patients ACHD.Twenty-five centres nine European countries participated the study. Consecutive diagnosed presenting one participating between 27 March 6...
Background Cardiovascular disease is the leading cause of death during pregnancy with thoracic aortic dissection being one main causes. Thoracic commonly related to hereditary disorders and congenital heart malformations such as bicuspid valve (BAV). Pregnancy considered a high risk period in women underlying aortopathy. Methods The ESC EORP Registry Of And Cardiac (ROPAC) prospective global registry that enrolled 5739 pre-existing cardiac disease. With this analysis, we aim study maternal...
Background: Marfan syndrome (MFS) is a multisystemic hereditary connective tissue disease. Aortic root aneurysms and dissections are the most common life-threatening cardiovascular disorders affecting these patients. Other cardiac manifestations include mitral valve prolapse, ventricular dysfunction arrhythmias. Medical treatment of features ultimately aimed at slowing down aortic growth rate preventing dissection. Losartan has been proposed as new therapeutic tool for this purpose. To which...
Over the past decade, our knowledge of genetic background thoracic aortic aneurysms and dissections (TAAD) has expanded dramatically. This not only led to a better understanding pathogenesis disease but also in risk stratification medical guidance patients their families. Strategies for molecular testing have reached hinge point with introduction high throughput techniques based on Next Generation Sequencing (NGS) routine diagnostics. It is therefore extremely important that clinicians field...
Background Biallelic pathogenic variants in the ATP-binding cassette subfamily C member 6 ( ABCC6 ) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous are associated with an increased risk of cardiovascular and cerebrovascular disease. As prevalence general population is estimated at ~1%, identifying additional -related (sub)clinical manifestations carriers utmost importance to reduce this burden Here, we present large Belgian cohort...
Pseudoxanthoma elasticum (PXE) is a currently intractable genetic disorder characterized by progressive ectopic calcification in the skin, eyes and arteries. Therapeutic trials PXE are severely hampered lack of reliable biomarkers. Serum propensity T50 blood test measuring functional anticalcifying buffer capacity serum. Here, we evaluated patients aiming to investigate its determinants suitability as potential biomarker for disease severity. Fifty-seven were included this cross-sectional...
Introduction Imaging fusion technology is promising as it radiation and contrast sparing. Herein, we compare conventional biplane angiography to multimodality image with live fluoroscopy using two-dimensional (2D)–three-dimensional (3D) registration (MMIF 2D−3D ) assess MMIF impact on exposure volume during cardiac catheterization of patients congenital heart disease (CHD). Methods We matched institutional procedures controls according patient characteristics (body mass index, age, gender)...
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor β (TGFβ)-associated vasculopathies. In its most typical form it characterized by presence hypertelorism, bifid uvula/cleft palate and aortic and/or tortuosity. LDS caused heterozygous loss function mutations in genes encoding TGFβ receptor 1 2 (TGFBR1 -2), which lead a paradoxical increase signaling. To address this apparent paradox gain more insight into...
Humans have a larger energy budget than great apes, allowing the combination of metabolically expensive traits that define our life history. This is ultimately related to cardiac output, product blood pumped from ventricle and number heart beats per minute, measure available for whole organism physiological activity. To show relationship between output expenditure in hominid evolution, we study surrogate aortic root diameter, humans apes. When compared gorillas chimpanzees, present an...
The transfemoral (TF) approach drives most of the advantages transcatheter aortic valve implantation (TAVI) over surgical replacement. Alternative accesses for TAVI are associated with higher complication rates, but still considered in ∼5% cases due to peripheral arterial disease (PAD). Percutaneous transluminal angioplasty can allow TF-TAVI selected severe calcific PAD; however, ancillary techniques calcium management often needed.
Abstract Background Detailed multidimensional assessment of patent foramen ovale (PFO) size with transesophageal echocardiography (TOE) may help to determine PFO pathogenicity in cryptogenic stroke patients. We explored the potential additive value Live xPlane and three‐dimensional (3D) TOE anatomical sizing techniques. Methods Imaging data 45 patients who underwent a 3D TOE‐assisted percutaneous closure were studied. The two‐dimensional (2D) separation distance right‐to‐left (RL) contrast...
Since the identification of fibrillin-1 gene as causal for Marfan syndrome, our knowledge molecular genetics and applicability genetic testing in clinical practice have expanded dramatically. Several new syndromes related to thoracic aortic aneurysms dissections (TAAD) been described list underlying genes syndromal nonsyndromal TAAD already includes more than 10 different is rapidly expanding. Based on this knowledge, insights into pathophysiology improved significantly, opportunities...