- Multiple Aortic Operations in Loeys-Dietz Syndrome: Report of 2 Cases
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Na KJ, Park KH
- KMID: 2382207
- Korean J Thorac Cardiovasc Surg.
- 2014 Dec;47(6):536-540.
- doi: 10.5090/kjtcs.2014.47.6.536
Due to its low prevalence and because there is lack of awareness about it, Loeys-Dietz syndrome is often mis-diagnosed as Marfan syndrome, which has similar skeletal abnormalities and aortic pathology.... -
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- Ascending Aortic Rupture in a Young Woman with Loeys-Dietz Syndrome: The First Case Report in Korea
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Kim HW, Lee TY, Moon DH, Choo SJ, Chung CH, Lee JW
- KMID: 2062951
- Korean J Thorac Cardiovasc Surg.
- 2009 Oct;42(5):639-644.
Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder... -
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- Anesthetic managements for correction of aortic valve regurgitation in a patient with Loeys-Dietz Syndrome: A case report
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Kim SH, Baek SW, Kwon WK, Kim DK, Yoon TG, Lim JA, Woo NS, Kim TY
- KMID: 2236511
- Korean J Anesthesiol.
- 2009 Sep;57(3):371-375.
- doi: 10.4097/kjae.2009.57.3.371
Loeys-Dietz Syndrome (LDS) is a recently described autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. It is characterized by the triad of 1) arterial tortuosity and aneurysms, 2) hypertelorism,... -
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- A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
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Suh YJ, Kwon HW, Kim GB, Kwon BS, Bae EJ, Noh CI, Choi JY, Kim KH, Kim YJ, Park SS
- KMID: 2225025
- Korean Circ J.
- 2012 Apr;42(4):288-291.
- doi: 10.4070/kcj.2012.42.4.288
Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ssR 1/2). The syndrome predisposes patients... -
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- Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome
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Sim HT, Seo DJ, Yu JJ, Baek JS, Goo HW, Park JJ
- KMID: 2382271
- Korean J Thorac Cardiovasc Surg.
- 2015 Aug;48(4):272-276.
- doi: 10.5090/kjtcs.2015.48.4.272
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder that is characterized by aggressive arterial and aortic disease, often involving the formation of aortic aneurysms. We describe the cases... -
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- Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
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Disha K, Schulz S, Breuer M, Owais T, Girdauskas E, Kuntze T
- KMID: 2460473
- Korean J Thorac Cardiovasc Surg.
- 2019 Oct;52(5):376-379.
- doi: 10.5090/kjtcs.2019.52.5.376
Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with... -
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- Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report
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Lee YJ, Yum MS, Kim EH, Choi HW, Lee BH, Yoo HW, Ko TS
- KMID: 2055579
- J Genet Med.
- 2013 Jun;10(1):47-51.
- doi: 10.5734/JGM.2013.10.1.47
Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a... -
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- Periodic Surveillance and Medical Management of Thoracic Aortic Aneurysm
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Choi SH
- KMID: 2268968
- Korean J Med.
- 2015 Oct;89(4):377-380.
- doi: 10.3904/kjm.2015.89.4.377
Thoracic aortic enlargement is a silent, but deadly, disease that is often diagnosed on imaging studies performed for unrelated indications and result in life threatening event such as aortic rupture... -
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- A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene
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Ha JS, Kim YH
- KMID: 2073643
- Korean J Pediatr.
- 2011 Jun;54(6):272-275.
- doi: 10.3345/kjp.2011.54.6.272
A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or... -
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- The Transspinal Canal Screwing Technique for Atlantoaxial Anomalies: A Technical Note and 2 Case Reports
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Takebayashi K, Kubota M, Yuzurihara M, Tachibana , Kawamata T
- KMID: 2452668
- Neurospine.
- 2019 Jun;16(2):293-297.
- doi: 10.14245/ns.1836118.059
It is difficult to treat atlantoaxial instability in patients with a high-riding vertebral artery or anomalies of the craniocervical junction. We report 2 successful cases in which the transspinal canal... -
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- Arterial Tortuosity Syndrome in a Neonate
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Kim KM, Hur SM, Yoon JH, Lee EJ, Lee JY
- KMID: 2405616
- Neonatal Med.
- 2018 Feb;25(1):49-52.
- doi: 10.5385/nm.2018.25.1.49
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue... -
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