"Loeys-Dietz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Descriptor ID |
D055947
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MeSH Number(s) |
C05.660.207.532 C14.907.055.050.362 C14.907.055.239.587 C14.907.109.139.587 C16.131.077.537 C16.320.510
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Loeys-Dietz Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Loeys-Dietz Syndrome".
This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in this website by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2013 | 1 | 0 | 1 |
2014 | 1 | 0 | 1 |
2015 | 1 | 0 | 1 |
2016 | 1 | 2 | 3 |
2017 | 2 | 0 | 2 |
2018 | 1 | 0 | 1 |
2019 | 2 | 0 | 2 |
2020 | 1 | 0 | 1 |
2021 | 3 | 1 | 4 |
2022 | 1 | 0 | 1 |
2023 | 3 | 0 | 3 |
2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles.
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Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium. J Med Genet. 2025 Jan 27; 62(2):82-88.
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Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome. J Am Heart Assoc. 2023 10 03; 12(19):e029518.
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Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States. Pediatr Cardiol. 2024 Jan; 45(1):133-142.
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Outcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease. JAMA Surg. 2023 08 01; 158(8):832-839.
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Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions. J Am Coll Cardiol. 2022 05 31; 79(21):2069-2081.
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Management of a?DAVF in a?Patient with Loeys-Dietz Syndrome Type?II : Case Report and Overview of the Literature. Clin Neuroradiol. 2021 09; 31(3):871-874.
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Surgical Management of Intraoperative Aortic Dissection in Type 3 Loeys-Dietz Syndrome with MYH11 Co-Mutation. Heart Surg Forum. 2021 03 03; 24(2):E231-E232.
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Novel finding of atrophic extraocular muscles in Loeys-Dietz syndrome: a case report and review of the literature. J AAPOS. 2021 04; 25(2):119-121.
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Prenatal ultrasound features of Loeys-Dietz syndrome Type?4. Ultrasound Obstet Gynecol. 2021 03; 57(3):504-506.
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Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection. JAMA Cardiol. 2021 01 01; 6(1):58-66.