Loey's Dietz syndrome

Loeys-Dietz syndrome
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: LDS

Overview

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).

Historical Perspective

It was identified and characterized by American physician Harry C. Dietz and Belgian physician Bart L. Loeys, for whom it is named.

Classification

There are currently two forms of Loeys-Dietz syndrome which are further subdivided into another two forms based upon the genetic abnormality as shown in the table below:

Type	Gene	Locus	OMIM	Description
1A	TGFBR1	9q22	609192	Also known as Furlong disease
1B	TGFBR2	3p22	610168
2A	TGFBR1	9q22	608967
2B	TGFBR2	3p22	610380	Previously known as Marfan syndrome type 2

Pathophysiology

Associated Conditions

• Congenital heart diseases including patent ductus arteriosus (connection between the aorta and the lung circulation) and atrial septal defect (connection between heart chambers)
• Abnormal junction of the brain and medulla (Arnold-Chiari malformation)
• Bicuspid aortic valves

Differentiating Loey's Dietz Syndrome from other Disorders

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.

Diagnosis

Physical Examination

General Appearance

• Scoliosis

Skin

• Translucency of the skin with velvety texture

Head

• Widely spaced eyes (orbital hypertelorism)
• Cleft palate or bifid uvula (a split in the tissue that hangs down in the back of the throat)

Cardiac

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

Extremities

• Contractures of fingers and toes (camptodactyly)
• Long fingers and lax joints
• Club foot
• Premature fusion of the skull bones (craniosynostosis)
• Joint hypermobility

Imaging Findings

Aortic and arterial aneurysms/dissections with tortuosity (corkscrew structure) of the arteries.

Treatment

As there is 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.

See also

• List of cutaneous conditions

External links

• Loeys-Dietz Syndrome Foundation
• orphan.net LDS-Syndrome
• GeneReview/NIH/UW entry on Loeys-Dietz Syndrome
• Loeys-Dietz Syndrome Canada