Document Detail


A case report of a patient with Ribbing disease underlines the connections between the skeletal and cardiovascular complications.
MedLine Citation:
PMID:  24765306     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
A 69-year-old woman suffered from Ribbing disease, a hereditary X autosomal dominant disease with multiple sclerosing dysplasias. However, it is less known that the genetic mutation can often induce cardiovascular complications. The patient had a hypertensive cardiopathy and had been treated with percutaneous coronary angioplasty and stenting because of a myocardial infarction. She was seen because of dyspnea and we detected an aneurysm of the ascending thoracic aorta. The patient underwent surgical repair. In Ribbing disease an up-regulation of genes interferes with the production, processing, or formation of collagen type II and XI. These genetic effects are thought to be specific for osteoblasts and are responsible for the skeletal pathology. However, the defective synthesis of collagen can also induce cardiovascular complications which may be similar to those described in patients with type III Ehlers-Danlos syndrome, with type IV Marfan syndrome, and with osteogenesis imperfecta. Rheumatologists who treat patients with Ribbing disease should seek the advice of cardiologists for the occurrence of cardiovascular complications.
Authors:
Giuseppe Cocco; Armen Yuri Gasparyan
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Publication Detail:
Type:  Journal Article     Date:  2011-07-01
Journal Detail:
Title:  Clinics and practice     Volume:  1     ISSN:  2039-7275     ISO Abbreviation:  Clin Pract     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2014-04-25     Completed Date:  2014-04-25     Revised Date:  2014-05-07    
Medline Journal Info:
Nlm Unique ID:  101563282     Medline TA:  Clin Pract     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  e45     Citation Subset:  -    
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