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Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain
Children with Marfan (MFS) and Loeys-Dietz syndrome (LDS) report limitations in physical activities, sports, school, leisure, and work participation...
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Ten-year follow-up study of a young woman with loeys-dietz syndrome: a case report
We herein report the 10-year surgical course of a 27-year-old woman who underwent two surgeries after being diagnosed with Loeys-Dietz syndrome. As...
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David V procedure and hemiarch replacement in a patient with Loeys-Dietz-Syndrome and beta thalassemia minor: a case report
We report the case of a 36-year-old European female patient presenting with a sinus valsalva aneurysm of 47 mm with moderate aortic regurgitation....
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Iatrogenic aortic dissection during aortic root replacement in an older Loeys–Dietz syndrome type III patient with no family history of aortic disease: a case report
BackgroundIatrogenic aortic dissection during cardiac surgery is a rare but critical complication. At present, no strategies have been developed to...
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Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
BackgroundLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic...
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Transarterial coil embolization of an aortic root pseudoaneurym in a patient with Loeys-Dietz syndrome: a case report
BackgroundLoeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder characterized by arterial aneurysms and vascular...
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Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys–Dietz Syndrome
Progressive aortic dilation is common in Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS). Risk factors for progression are poorly understood....
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A contemporary approach to a young female patient with Loeys-Dietz syndrome and an uncomplicated type B aortic dissection: a case report
BackgroundAortic dissection is a relatively uncommon, but often catastrophic disease that requires early and accurate diagnosis. It often presents in...
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Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome
ObjectivesLoeys–Dietz syndrome (LDS) and vascular Ehlers–Danlos Syndrome (vEDS) are genetically heterogeneous heritable disorders of connective...
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Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome
BackgroundLoeys-Dietz syndrome (LDS) is a systemic connective tissue disease (CTD) associated with a predisposition for intestinal inflammation, food...
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Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of...
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Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients
BackgroundLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder for which 6 genes in the TGF-β pathway have been identified as causative....
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Management hereditärer thorakaler Aortenerkrankungen (HTAD)
Hereditary thoracic aortic diseases (HTAD) are an underappreciated problem in vascular surgery. First, HTAD are often considered a “rarity”, although...
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Oral health-related quality of life in Loeys-Dietz syndrome, a rare connective tissue disorder: an observational cohort study
BackgroundLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder whose oral manifestations and dental phenotypes have not been...
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Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
Lateral meningocele syndrome is characterized by multiple lateral meningoceles with a distinctive craniofacial appearance, hyperextensibility of the...
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Management hereditärer thorakaler Aortenerkrankungen (HTAD)
Hereditary thoracic aortic diseases (HTAD) are an underappreciated problem in vascular surgery. First, HTAD are often considered a “rarity”, although...
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The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management
Purpose of ReviewMarfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular,...
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Outcomes of complex abdominal wall reconstruction in patients with connective tissue disorders: a single center experience
IntroductionIndividuals diagnosed with connective tissue disorders (CTD) are known to be predisposed to incisional hernia formation. However, there...