Article
Medicine, General & Internal
Mubarak Alqahtani, Amandine Claudinot, Marine Gaudry, Axel Bartoli, Pierre Antoine Barral, Vincent Vidal, Louis Boyer, Tiffany Busa, Farah Cadour, Alexis Jacquier, Mariangela De Masi, Laurence Bal
Summary: This study presents five cases of vascular Ehlers-Danlos syndrome (vEDS), highlighting the challenges in diagnosis and treatment faced by clinicians. The results emphasize the need for a multidisciplinary approach in managing vEDS patients and show that timely endovascular or hybrid treatments by skilled interventional radiologists can lead to favorable outcomes.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Matei Popa Cherecheanu, Mihaela Oana Romanitan, Ruxandra Pirvulescu, Raluca Iancu, Gerhard Garhofer, George Iancu, Alina Popa Cherecheanu, Mihail Zemba, Victor Vasile, Andrei Simonov, Daniel Branisteanu
Summary: Ehlers-Danlos syndromes (EDS) are rare inherited disorders that affect connective tissues. There are 13 types, with most affecting joints or skin. Symptoms include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. The most serious type is vascular EDS (vEDS) or type 4, which can lead to vessel dissections, organ lesions, bleeding, and thromboembolic events.
FRONTIERS IN MEDICINE
(2023)
Article
Surgery
Hassan Baderkhan, Anders Wanhainen, Anna Stenborg, Eva-Lena Stattin, Martin Bjorck
Summary: The study found that in Swedish patients with vEDS, 65% of individuals were able to reach the target dose of Celiprolol and showed good tolerance to the drug. Despite fatal vascular events, observations suggest that Celiprolol may have a protective effect on vEDS.
EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Kyota Hashimoto, Ryota Sakai, Akiko Shibata, Yusuke Okada, Syoichi Yoshinaga, Takahiko Kurasawa, Tsuneo Kondo, Koichi Amano
Summary: This article presents a case of Takayasu arteritis (TAK) associated with vascular Ehlers-Danlos syndrome (vEDS), resulting in multiple arterial aneurysms and stenosis leading to multi-organ infarction. The patient was successfully treated using anti-inflammatory agents, glucocorticoids, tocilizumab, and interventional radiology. The importance of considering concurrent vasculitis syndrome and non-inflammatory vasculopathy, including hereditary disorders, in cases with multiple aneurysms, stenosis, and dissections leading to multi-organ infarctions is emphasized.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Genetics & Heredity
Sara B. Stephens, Melissa Russo, Sherene Shalhub, Taylor Beecroft, Justin Weigand, Dianna M. Milewicz, Shaine A. Morris
Summary: This study aims to investigate birth outcomes data for patients with vascular Ehlers-Danlos syndrome (VEDS). The results indicate that VEDS patients have a higher rate of preterm birth and low birthweight, and the risk of preterm birth is determined by the fetal VEDS diagnosis alone, rather than the maternal affected status.
GENETICS IN MEDICINE
(2022)
Review
Health Care Sciences & Services
Alexandra Menni, Georgios Tzikos, Alexandros Sarafis, Athina Ververi, George Chatziantoniou, Vasileios Rafailidis, Stavros Panidis, Patroklos Goulas, Eleni Karlafti, Stylianos Apostolidis, Olga Giouleme, Antonios Michalopoulos, Daniel Paramythiotis
Summary: This article describes a case of vascular type Ehlers-Danlos syndrome (vEDS) with coexisting segmental absence of intestinal musculature, and reviews the existing literature on this topic. The diagnosis of vEDS was confirmed through genetic testing and conservative treatment was adopted. A comprehensive review of the international literature revealed 34 reported cases of bowel perforation in vEDS so far.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Genetics & Heredity
Masashi Uehara, Jun Takahashi, Tomoki Kosho
Summary: Spinal deformity in Ehlers-Danlos syndrome (EDS) is a significant symptom that can greatly impair a patient's quality of life and daily activities. Treatment options vary depending on the severity of the deformity and associated complications. This review discusses the current state of clinical research and treatment of spinal deformities in EDS, with a focus on the musculocontractural type. Further studies are necessary to enhance our understanding of the underlying mechanisms of spinal deformity in EDS.
Review
Cell Biology
Shaina P. Royer, Sangyoon J. Han
Summary: Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders characterized by skin stretchability, joint hypermobility, and instability, possibly associated with reduced tissue stiffness. Comorbidities include mast cell activation syndrome and impaired wound healing, and potential mechanobiological mechanisms need further investigation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Samia Boussouar, Amira Benattia, Jean. -Baptiste Escudie, Laure Gibault, Frederique Capron, Anne Legrand, Pierre-Yves Brillet, Xavier Jeunemaitre, Philippe A. Grenier, Elie Mousseaux, Michael Frank, Olivier Sanchez
Summary: This study describes the CT features of lung involvement in patients with vEDS, with around 57.3% of patients showing abnormalities in lung parenchyma, most commonly emphysema. Surgical samples histologically revealed lung issues often correlated with arterial abnormalities.
EUROPEAN RADIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Salma Adham, Anne Legrand, Rosa-Maria Bruno, Clarisse Billon, Violaine Dalens, Pierre Boutouyrie, Jean-Michael Mazzella, Sonia Gueguen, Michael Frank, Tristan Mirault, Xavier Jeunemaitre
Summary: Most vEDS patients have arterial lesions, primarily in medium-size arteries (MSA). DN variants are associated with a higher prevalence of arterial lesions, especially in supra-aortic trunks, while HI variants are more likely to have both arterial and aortic lesions. Patients with DN variants have a higher frequency of MSA lesions.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Genetics & Heredity
Mahsima Shabani, Ashkan Abdollahi, Bobby K. Brar, Gretchen L. MacCarrick, Bharath Ambale Venkatesh, Joao A. C. Lima, Joann N. Bodurtha
Summary: A systematic review was conducted to identify the regional and vessel-specific spectrum of aneurysms in different subtypes of Ehlers-Danlos Syndrome (EDS). The review included 448 patients from 220 studies, and it was found that aneurysms were commonly found in the abdominopelvic area, intracranial region, and thorax in EDS patients. The study also highlighted that aneurysm development in EDS is not limited to arteries, but can also affect the venous system and cardiac septa.
Article
Gastroenterology & Hepatology
Ching Y. Lam, Olafur S. Palsson, William E. Whitehead, Ami D. Sperber, Hans Tornblom, Magnus Simren, Imran Aziz
Summary: Individuals with HSD/hEDS have a high prevalence of Rome IV FGIDs, with factors such as number of somatic symptoms, quality of life, and healthcare utilization playing a role. Treatment of somatic symptoms related to FGIDs should be emphasized in patients with HSD/hEDS to reduce the burden of gastrointestinal illness.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Multidisciplinary Sciences
Mirell Wobbe, Friedrich Reinhardt, Reinhard Reents, Jens Tetens, Kathrin F. Stock
Summary: This study provides statistical evidence of the detrimental effects of WFFS on the reproductive performance of Warmblood horses. However, indications of favorable dressage performance of WFFS carriers were found.
Article
Dermatology
Satoko Ishikawa, Tomoki Kosho, Tomoko Kaminaga, Manabu Miyamoto, Yoichiro Hamasaki, Shigemi Yoshihara, Shujiro Hayashi, Ken Igawa
Summary: This study focuses on anomalies in collagen fiber size and the endoplasmic reticulum stress response in patients with Vascular-type Ehlers-Danlos syndrome (vEDS). The research found that ATF6 expression levels were significantly higher in the vEDS group, while COMP and COL3A1 levels were lower. The fragile collagen fibrils in vEDS might form as a result of ER stress, leading to the appearance of small, newly formed collagen fibrils.
JOURNAL OF DERMATOLOGY
(2021)
Article
Genetics & Heredity
Chloe Angwin, Neeti Ghali, Fleur Stephanie van Dijk
Summary: Vascular Ehlers-Danlos syndrome (vEDS) is an inherited connective tissue disorder that increases the risk of arterial dissection and organ rupture. Pregnancy and childbirth in women with vEDS are associated with significant morbidity and mortality. Pre-implantation genetic diagnosis (PGD) is approved for vEDS to prevent the implantation of affected embryos.
FRONTIERS IN GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Florian S. Schoenhoff, Diane E. Alejo, James H. Black, Todd C. Crawford, Harry C. Dietz, Joshua C. Grimm, Jonathan T. Magruder, Nishant D. Patel, Luca A. Vricella, Allen Young, Thierry P. Carrel, Duke E. Cameron
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2020)
Editorial Material
Surgery
Florian S. Schoenhoff, Juerg Schmidli
EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Thierry Carrel, Florian Schoenhoff
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Thierry Carrel, Florian S. Schoenhoff
THORACIC AND CARDIOVASCULAR SURGEON
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Selim Mosbahi, Paul-Philipp Heinisch, Florian S. Schoenhoff, David C. Berger
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2020)
Article
Surgery
Vladimir Makaloski, Hannah Widenka, Florian Schoenhoff, Konstantinos Spanos, Thomas R. Wyss, Juerg Schmidli
Summary: This study reports the early outcomes of patients undergoing thoracic endovascular aortic repair (TEVAR) for blunt traumatic aortic injury (BTAI) and evaluates the use and doses of unfractionated heparin (UFH) during the procedure. The results suggest that systemic heparinization in different doses during TEVAR for BTAI can be safe with no intraoperative bleeding or thromboembolic complications in the early postoperative period.
ANNALS OF VASCULAR SURGERY
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Florian Schoenhoff
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Murat Yildiz, Gabor Matyas, Kerstin Wustmann, Christine Attenhofer Jost, Francesca Bonassin, Beatrice Fruh, Kan Min, Petra Gehle, Giancarlo Bombardieri, Thierry Carrel, Florian Schoenhoff
Summary: Marfan syndrome, the most common hereditary disease of connective tissue with vascular components, is caused by mutations in the gene encoding fibrillin-1. It is a multisystemic disease involving the aorta, mitral valve, eyes, and skeleton. Pharmacological treatment and careful planning during pregnancy are crucial, along with providing structured long-term follow-up for patients with Marfan syndrome.
ZEITSCHRIFT FUR HERZ THORAX UND GEFASSCHIRURGIE
(2021)
Article
Surgery
Juliette Brusa, Eric Lutz, Florian S. Schoenhoff, Salome Weiss, Juerg Schmidli, Vladimir Makaloski
Summary: The study aimed to evaluate the outcomes of supraclavicular revascularization in TEVAR for proximal landing zone extension. The results showed that the procedure is safe with acceptable rates of re-intervention, but there is a higher risk of stroke during emergency procedures. Left neck nerve injuries are common complications but often resolve completely in the first postoperative year. Excellent graft patency can be expected during follow-up.
ANNALS OF VASCULAR SURGERY
(2022)
Article
Medicine, Research & Experimental
Kady Fischer, Rajevan Ranjan, Jan-Oliver Friess, Gabor Erdoes, Jan Mikasi, Rico Baumann, Florian S. Schoenhoff, Thierry P. Carrel, Nicolas Brugger, Balthasar Eberle, Dominik P. Guensch
Summary: This study aims to investigate the effects of normoxemia and hyperoxia on cardiac function in anesthetized stable chronic CAD patients. By using TEE to assess myocardial strain, early changes in cardiac function can be promptly measured, helping anesthesiologists to better tailor oxygen therapy for patients undergoing general anesthesia with CAD.
CONTEMPORARY CLINICAL TRIALS
(2021)
Article
Anesthesiology
Maks Mihalj, Selim Mosbahi, Juerg Schmidli, Paul Philipp Heinisch, David Reineke, Florian Schoenhoff, Alexander Kadner, Joerg C. Schefold, Lorenz Raber, Evgenij V. Potapov, Markus M. Luedi
Summary: The COVID-19 pandemic has highlighted the importance of strict safety measures in medical care for surgical patients, especially in cardiac surgery patients at higher risk of COVID-19 complications. Preoperative strategies like risk stratification, telemedicine, and appropriate screening are crucial, as well as perioperative measures for safe operation and deciding when to perform cardiovascular surgeries in high-risk patients.
BEST PRACTICE & RESEARCH-CLINICAL ANAESTHESIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Maria Nucera, Paul P. Heinisch, Bettina Langhammer, Silvan Jungi, Maks Mihalj, Patrick Schober, Markus M. Luedi, Murat Yildiz, Florian S. Schoenhoff
Summary: This study found sex differences in aortic events among Marfan syndrome patients. Male patients had a significantly higher probability of experiencing an aortic event compared to female patients, but there was no increased probability for recurrent events in male patients. Follow-up revealed no sex differences in the occurrence of Stanford type A or type B aortic dissection between male and female patients. Most women were not aware of their Marfan syndrome diagnosis before conceiving. 10% of women with children suffered from peripartum aortic events, while twice as many female patients with children suffered from aortic dissection unrelated to childbirth. There were no sex differences affecting mortality in Marfan patients.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2022)
Article
Cardiac & Cardiovascular Systems
Maks Mihalj, Vladimir Makaloski, Samuel Hurni, Jan-Oliver Friess, Carlo Melis, Thierry P. Carrel, Florian S. Schoenhoff
Article
Medicine, General & Internal
Thomas Schachner, Julia Oji-Zurmeyer, Bartosz Rylski, Stephan Kapral, Olaf Stanger, Gerlig Widmann, Florian Schoenhoff, Martin Czerny, Stefan Jochberger
WIENER MEDIZINISCHE WOCHENSCHRIFT
(2020)
Article
Cardiac & Cardiovascular Systems
Murat Yildiz, Gabor Matyas, Kerstin Wustmann, Christine Attenhofer Jost, Francesca Bonassin, Beatrice Frueh, Kan Min, Petra Gehle, Giancarlo Bombardieri, Thierry Carrel, Florian Schoenhoff
ZEITSCHRIFT FUR HERZ THORAX UND GEFASSCHIRURGIE
(2020)
