Click here for an explanation of these scores
Answer Rating key
|
search
|
|
strong
|
|
appraisal
|
|
weak
|
|
confidence
|
|
moderate
|
Question answered:27/07/07 Warning! this question is over two years old.
We found relatively little on this condition. The most comprehensive document was contained in the OMIM database [1] which describes a number of case reports on the subject. A number of the references in that article point to recent publications by one author P J Coucke (whose e-mail is paul.coucke@rug.ac.be) . One of these articles reports:
“Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall.”
A website called Humpath (which we’ve never used before) gives the following information [3]:
“Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint laxity, suggestive of a connective tissue disorder. ATS is transmitted in an autosomal recessive mode, but the causal gene is unknown.
Synopsis
- arterial tortuosity
elongation of the main arteries
severe peripheral stenosis of the main pulmonary artery
soft skin with abundant subcutaneous tissue
joint laxity
hernias”
Finally, you may be interested in another case report, which reported on cardiac findings in a newborn with ATS [4]
References
1) http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208050
2) http://pmid.us/16550171
3) http://www.humpath.com/arterial-tortuosity-syndrome
4) http://eurheartj.oxfordjournals.org/cgi/rapidpdf/ehi836v1
DISCLAIMER: TRIPanswers is a collection of clinical questions and answers. Each provider will have their own methodology in answering questions and these are likely not to be as rigorous as systematic review. If you have any doubt as to the implications of this contact the Q&A Service Provider for further information. This document is presented for information purposes only. This document cannot and should not be used as a basis of diagnosis or choice of treatment, and is in no way intended to replace professional medical care or attention by a qualified practitioner. TRIPanswers and TRIP Database Ltd are not responsible or liable for, directly or indirectly, ANY form of damage whatsoever resulting from the use/misuse of information contained in or implied by this document. Also, ensure you have read the terms and conditions for using the site.