In Marfan's syndrome, which is a connective tissue disorder of hereditary origin, collagenous tissue development and bone synthesis are generally altered in addition to the occurrence of many systemic deformities. External ear, stapes, and vestibular aqueduct pathologies are reported as some of the otological deformities. However, the malleus and incus pathologies of the ear are not reported in any study. In the morphometric measurements carried out, the distance between the malleus head and manubrium was found to be 9.8 mm. When similar measurements were carried out for the incus, the distance between the upper part of the incus body and tip of the long process was found to be 6.9 mm. All of these measurements were detected to be greater than in normal people. It can be concluded from this study that in Marfan's syndrome, in addition to the musculoskeletal alterations particularly in bone synthesis, the ossicular chain in the middle ear is also affected.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1002/lary.22400 | DOI Listing |
Cureus
December 2024
Department of Cardiac Surgery, King Fahad University Hospital, Dammam, SAU.
Marfan syndrome (MFS) is an autosomal dominant disorder affecting the connective tissue, often leading to aortic root dilation, aneurysm, and dissection. We report on a 35-year-old Bangladeshi female patient with MFS who presented with chest pain, shortness of breath, and a significant aortic root aneurysm, along with a reduced ejection fraction (EF) of 20%-25%. Imaging confirmed significant aortic dilation, and due to the high risk of mortality, an urgent Bentall procedure was performed.
View Article and Find Full Text PDFGenome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
View Article and Find Full Text PDFCureus
November 2024
Anesthesia and Intensive Care, Melegnano Hospital - ASST Melegnano e Martesana, Milan, ITA.
We describe the case of a 72-year-old male suffering from Marfan syndrome, who, because of cardiac abnormalities correlated to the syndrome, received an orthotopic heart transplant four years ago. In 2024, he was diagnosed with right colon cancer. The decision to operate was difficult because of the elevated perioperative risk.
View Article and Find Full Text PDFCureus
November 2024
Cardiovascular Medicine, Hayatabad Medical Complex, Peshawar, PAK.
Introduction and objectives The Bentall procedure is a surgical technique designed to address aortic root abnormalities, including issues with the aortic valve, aortic root, and ascending aortic disease. This study aimed to assess the short-term outcomes of 39 patients who underwent the Bentall and concomitant procedures: aortic root enlargement, personalized external aortic root support (PEARS), and Mini-Bentall procedures at a single center. Methodology We conducted a retrospective study involving 39 patients who underwent surgery for aortic root pathologies such as dissection, Marfan syndrome (MFS), bicuspid aortic valve, degenerative disease, and atherosclerosis at our hospital between January 2019 and September 2024.
View Article and Find Full Text PDFPLoS One
December 2024
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Background: COVID-19 infection and vaccination have been reported to confer an elevated risk for cardiovascular events (CVE). We sought to determine whether individuals with an underlying vascular connective tissue disorder including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), or vascular Ehlers Danlos syndrome (vEDS) are at increased risk for cardiac events after COVID-19 infection or vaccination.
Methods: 325 respondents self-reported data through a cross-sectional, web-based survey available from 22 November 2021, through 15 March 2022 regarding COVID-19 illness and vaccinations, the occurrence of any CVE, and adverse events following vaccination.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!