A case report of a patient with Ribbing disease underlines the connections between the skeletal and cardiovascular complications
Abstract
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.Downloads
Download data is not yet available.
Published
2011-06-22
Keywords:
ribbing disease, skeletal and cardiovascular complications.
Statistics
- Abstract views: 1630
- PDF: 180
- HTML: 373
How to Cite
Cocco, G., & Gasparyan, A. Y. (2011). A case report of a patient with Ribbing disease underlines the connections between the skeletal and cardiovascular complications. Clinics and Practice, 1(3), e45. https://doi.org/10.4081/cp.2011.e45
Copyright (c) 2011 Giuseppe Cocco, Armen Yuri Gasparyan

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.