Loeys–Dietz syndrome

Loeys–Dietz syndrome
Other namesAortic aneurysm syndrome due to TGF-beta receptors anomalies
This condition is inherited in an autosomal dominant manner[1]
Pronunciation
  • /ˌloʊiːzˈdiːts/ LOH-eez-DEETS[2]
SpecialtyCardiology, rheumatology, medical genetics 

Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome.[3][4][5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment. It was previously believed that the life expectancy of an individual with this condition was around 30-40 years of age, however with progressive treatments such as possibilities for surgery and medications like losartan it is proven now that life expectancy can be full age with the correct medical attention and scans.


There are five types of the syndrome, designated types I through V, caused by mutations in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3, respectively. These five genes encoding transforming growth factors play a role in cell signaling that promotes growth and development of the body's tissues. Mutations of these genes cause production of proteins without function. The skin cells for individuals with Loeys–Dietz syndrome are not able to produce collagen, the protein that allows skin cells to be strong and elastic. This causes these individuals to be susceptible to different tears in the skin such as hernias. Although the disorder has an autosomal pattern of inheritance, this disorder results from a new gene mutation in 75% of cases and occurs in people with no history of the disorder in their family. In other cases it is inherited from one affected parent.[6]

Loeys–Dietz syndrome was identified and characterized by pediatric geneticists Bart Loeys and Harry "Hal" Dietz at Johns Hopkins University in 2005.

  1. ^ "Loeys Dietz syndrome". Orphanet. Archived from the original on 30 July 2017. Retrieved 27 July 2017.
  2. ^ "Research and Treatment | Loeys-Dietz Syndrome". Johns Hopkins Medicine. 10 August 2018. Archived from the original on 2021-12-19. Retrieved 8 November 2020.
  3. ^ Loeys BL, Schwarze U, Holm T, et al. (2006). "Aneurysm syndromes caused by mutations in the TGF-beta receptor". N. Engl. J. Med. 355 (8): 788–98. doi:10.1056/NEJMoa055695. PMID 16928994.
  4. ^ LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM (2007). "Severe aortic and arterial aneurysms associated with a TGFBR2 mutation". Nature Clinical Practice Cardiovascular Medicine. 4 (3): 167–71. doi:10.1038/ncpcardio0797. PMC 2561071. PMID 17330129.
  5. ^ Loeys BL, Chen J, Neptune ER, et al. (March 2005). "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2". Nat. Genet. 37 (3): 275–81. doi:10.1038/ng1511. hdl:1854/LU-330238. PMID 15731757. S2CID 24499542.
  6. ^ Loeys–Dietz syndrome at NLM Genetics Home Reference
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