Loeys-Dietz syndrome Totally Explained

Everything about Loeys-dietz Syndrome totally explained

Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2). It was identified and characterized by American physician Harry C. Dietz and Belgian physician Bart L. Loeys, for whom it's named.

Symptoms

The main clinical characteristics include:

Widely spaced eyes (orbital hypertelorism)
Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat)
Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.

Other findings can include:

Scoliosis

Indented or protruding chest wall (pectus excavatum or pectus carinatum)

Contractures of fingers and toes (camptodactyly)

Long fingers and lax joints

Club foot

Premature fusion of the skull bones (craniosynostosis)

Joint hypermobility

Congenital heart problems including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)

Translucency of the skin with velvety texture

Abnormal junction of the brain and medulla (Arnold-Chiari malformation)

Bicuspid Aortic valves Many of the physical findings typical in Loeys-Dietz syndrome are also found in Marfan syndrome cases, including increased risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, and dural ectasia (a gradual stretching and weakening of the dura mater that can cause abdominal and leg pain). However, it also has some additional traits not typical of Marfan patients, including widely spaced eyes, a split uvula in the back of the throat, and skin findings such as easy bruising or abnormal scars.

Treatment

As there's no known cure, Loeys-Dietz syndrome is a lifelong condition. Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely to monitor aneurysm formation, which can then be corrected with vascular surgery.
Previous research in laboratory mice has suggested that the angiotensin II receptor antagonist losartan, which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome. A large clinical trial sponsored by the National Institutes of Health is currently underway to explore the use of losartan to prevent aneurysms in Marfan syndrome patients. Both Marfan syndrome and Loeys-Dietz syndrome are associated with increased TGF-beta signaling in the vessel wall. Therefore, losartan also holds promise for the treatment of Loeys-Dietz syndrome.

Further Information

Get more info on 'Loeys-dietz Syndrome'.

External Link Exchanges

Do you know how hard it is to get a link from a large encyclopaedia? Well we're different and will prove it. To get a link from us just add the following HTML to your site on a relevant page:

<a href="http://loeys-dietz_syndrome.totallyexplained.com">Loeys-Dietz syndrome Totally Explained</a>

Then simply click through this link from your web page. Our crawlers will verify your link, extract the title of your web page and instantly add a link back to it. If you like you can remove the words Totally Explained and embed the link in article text.
As long as your link remains in place, we'll keep our link to you right here. Please play fair - our crawlers are watching. Your site must be closely related to this one's topic. Any kind of spamming, dubious practises or removing the link will result in your link from us being dropped and, potentially, your whole site being banned.