Article
Cardiac & Cardiovascular Systems
Angela Lopez-Sainz, Laia Mila, Jose Rodriguez-Palomares, Javier Limeres, Chiara Granato, Lucia La Mura, Ana Sabate, Andrea Guala, Laura Gutierrez, Laura Galian-Gay, Augusto Sao-Aviles, Sergi Bellmunt, Rafael Rodriguez, Hug Cuellar-Calabria, Albert Roque, Ignacio Ferreira-Gonzalez, Artur Evangelista, Gisela Teixido-Tura
Summary: This study revealed that aortic branch aneurysms are present in approximately one-quarter of patients with MFS, are associated with patient age and aortic dilation, and independently predict the need for aortic surgery.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Rheumatology
Lily Pollock, Ashley Ridout, James Teh, Colin Nnadi, Dionisios Stavroulias, Alex Pitcher, Edward Blair, Paul Wordsworth, Tonia L. Vincent
Summary: Marfan syndrome is a genetic disorder with ocular, cardiovascular, and musculoskeletal manifestations. Vascular complications pose the greatest threat, but effective management options have reduced risk. Musculoskeletal manifestations, although less attention has been given, can significantly impact quality of life and are crucial for diagnosis.
CURRENT RHEUMATOLOGY REPORTS
(2021)
Article
Genetics & Heredity
Stefano Nistri, Rosina De Cario, Elena Sticchi, Gaia Spaziani, Matteo Della Monica, Sabrina Giglio, Silvia Favilli, Betti Giusti, Pierluigi Stefano, Guglielmina Pepe
Summary: Marfan syndrome (MFS) and Loeys-Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders with overlapping clinical manifestations but different characteristics, and age plays a role in the onset of symptoms.
Review
Medicine, General & Internal
Qiu Du, Dingding Zhang, Yue Zhuang, Qiongrong Xia, Taishen Wen, Haiping Jia
Summary: Marfan syndrome is a rare connective tissue disease characterized by cardiovascular, ocular, and skeletal system disorders, with molecular genetic factors playing critical roles in its pathogenesis.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Nupoor Narula, Richard B. Devereux, Grace P. Malonga, Ingrid Hriljac, Mary J. Roman
Summary: The study found that there is an increased risk of aortic dissection during pregnancy in Marfan syndrome patients, especially in those unaware of their diagnosis. Additionally, most patients maintained stable aortic dimensions during pregnancy, leading to favorable pregnancy outcomes.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Surgery
David J. Laczynski, Siwei Dong, Vidyasagar Kalahasti, Levester Kirksey, Jarrad W. Rowse, Jon G. Quatromoni, Sean P. Lyden, Francis J. Caputo
Summary: This study evaluated the prevalence of intracranial aneurysms (IA) in patients with Marfan syndrome (MFS) who underwent intracranial imaging, and found a prevalence rate of 7.1%. There were no significant associations between age, aortic characteristics, and the occurrence of IA, but this finding may be limited by the small number of aneurysms.
JOURNAL OF VASCULAR SURGERY
(2023)
Article
Orthopedics
Patrick M. Osborn, Andrew H. Schmidt
Summary: The study developed Appropriate Use Criteria (AUC) for the Diagnosis and Management of Acute Compartment Syndrome (ACS) based on evidence-based information and clinical expertise to improve patient care. Clinical indications typical of patients suspected of ACS were identified, and treatment appropriateness was rated by a multidisciplinary voting panel.
JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS
(2021)
Article
Geriatrics & Gerontology
Nick Lasse Beetz, Christoph Maier, Seyd Shnayien, Tobias Daniel Trippel, Petra Gehle, Uli Fehrenbach, Dominik Geisel
Summary: This study analyzed body composition using AI-based tissue segmentation in patients with Marfan syndrome to identify predictors of progressive aortic enlargement. Results showed significantly higher skeletal muscle density in patients with progressive aortic enlargement, and both skeletal muscle density and psoas muscle index were found to predict aortic enlargement.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Article
Multidisciplinary Sciences
Samuel D. D. Salinas, Yasmeen M. M. Farra, Keyvan Amini Khoiy, James Houston, Chung-Hao Lee, Chiara Bellini, Rouzbeh Amini
Summary: Marfan syndrome leads to the degradation of elastin fiber integrity in the extracellular matrix, hindering normal tricuspid valve function. This study investigated the role of elastin in the ECM of the tricuspid valve and found that elastase treatment resulted in increased stiffness and reduced radial compliance.
Review
Medicine, General & Internal
Dianna M. Milewicz, Alan C. Braverman, Julie De Backer, Shaine A. Morris, Catherine Boileau, Irene H. Maumenee, Guillaume Jondeau, Arturo Evangelista, Reed E. Pyeritz
Summary: Marfan syndrome is a genetic disorder characterized by cardiovascular, skeletal, and ocular manifestations, caused by mutations in the FBN1 gene encoding fibrillin-1, a major structural component of the extracellular matrix. Early diagnosis and management are crucial to prevent life-threatening complications such as aortic dissections.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Article
Biochemistry & Molecular Biology
Maria Elena Soto, Israel Perez-Torres, Linaloe Manzano-Pech, Elizabeth Soria-Castro, Almilcar Morales-Marin, Edgar Samuel Ramirez-Marroquin, Humberto Martinez-Hernandez, Valentin Herrera-Alarcon, Veronica Guarner-Lans
Summary: Marfan syndrome (MFS) is caused by a gene mutation, leading to oxidative stress that disturbs redox homeostasis. The study found decreased selenium levels in the thoracic aorta aneurysm (TAA) of MFS patients, along with increased inflammation and carbonylation. This decrease in selenium can contribute to the loss of redox homeostasis and overexpression of MMP9 and MMP2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto, Mitsuko Nakashima, Tomomi Yamaguchi, Tomoki Kosho, Tsutomu Ogata, Hirotomo Saitsu
Summary: Exome sequencing and panel testing have improved the diagnostic yield in genetic analysis. This study utilized genome sequencing and RNA sequencing to explore the genetic basis of Marfan syndrome in a family. The findings suggest that urinary cells can be used as a clinically accessible tissue for RNA sequencing, especially when disease-causing genes are poorly expressed in the blood.
JOURNAL OF HUMAN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Keiichi Asano, Anna Cantalupo, Lauriane Sedes, Francesco Ramirez
Summary: This article describes a series of studies on Marfan syndrome that have implicated endothelial dysfunction and improper angiotensin II and TGF beta signaling in driving thoracic aortic disease in Marfan syndrome mice. These investigations have influenced the conceptualization of possible new therapies to slow down or even halt aneurysm progression in this relatively common connective tissue disorder.
Article
Cardiac & Cardiovascular Systems
Wei-Wen Lim, Jinrui Dong, Benjamin Ng, Anissa A. Widjaja, Chen Xie, Liping Su, Xiu-Yi Kwek, Nicole G. Z. Tee, Chee Jian Pua, Sebastian Schafer, Sivakumar Viswanathan, Stuart A. Cook
Summary: IL11 is upregulated in the aorta of Marfan syndrome patients, leading to aortic dilatation, inflammation, and fibrosis. Therapeutic inhibition of IL11 may be a new approach in treating Marfan syndrome.
CIRCULATION RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Scott A. LeMaire, Lin Zhang, Nicholas S. Zhang, Wei Luo, James P. Barrish, Qianzi Zhang, Joseph S. Coselli, Ying H. Shen
Summary: The study found that ciprofloxacin accelerates aortic root enlargement and increases the incidence of aortic dissection and rupture in Marfan mice. This effect is partially due to the suppression of lysyl oxidase expression, further compromising the inherited defect in aortic elastic fibers.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)