Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder which has many features similar to Marfan syndrome.
The disease is characterized by skeletal manifestations and vasculopathies. Although Loeys-Dietz syndrome shares many similarities with Marfan syndrome, the course is often more aggressive with respect to vasculopathy and is more likely to affect peripheral arteries.
The classical triad of Loeys-Dietz syndrome is described as 1:
arterial tortuosity and aneurysms
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Epidemiology
Loeys-Dietz syndrome is rare, with prevalence estimated at less than one per 100,000.
Clinical presentation
Disease spectrum and associated features include:
Craniofacial
Cardiovascular
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non-aortic aneurysms (a distinguishing feature of Loeys-Dietz syndrome), including:
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associated congenital cardiac abnormalities:
Musculoskeletal
dolichostenomelia (unusually long limbs)
cervical spine instability
Other
developmental delay
environmental allergies
Pathology
It is caused by mutations in the genes encoding transforming growth factor-beta receptor 1 (TGFBR1) or 2 (TGFBR2). Although Loeys-Dietz syndrome is inherited in an autosomal dominant pattern, de novo mutations account for approximately 75% of cases.
Subtypes
Loeys-Dietz syndrome can be subdivided into four subtypes depending on their genetic mutations and resulting phenotypic features.
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type I: predominantly craniofacial features
TGFBR1 mutation; chromosome 9q22
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type II: predominantly cutaneous features
TGFBR2 mutation; chromosome 3p22
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type III: predominantly aneurysm-osteoarthritis features
SMAD3 mutation; chromosome 15q
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type IV: predominantly Marfanoid features
TGFB2 mutation; chromosome 1q41
Radiographic features
Please refer to individual articles for the respective characteristics.
History and etymology
It is named after Harry C Dietz, an American physician, and Bart L Loeys 1, a Belgian physician.
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