ABSTRACT
Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome CACP syndrome and also revealed a rare mutation in the causative gene.
Subject(s)
Arthropathy, Neurogenic/genetics , Coxa Vara/genetics , DNA/genetics , Hand Deformities, Congenital/genetics , Mutation , Pericarditis, Constrictive/genetics , Proteoglycans/genetics , Rare Diseases , Siblings , Synovitis/genetics , Adolescent , Arthropathy, Neurogenic/diagnosis , Arthropathy, Neurogenic/metabolism , Cardiac Catheterization , Child , Coxa Vara/diagnosis , Coxa Vara/metabolism , DNA Mutational Analysis , Echocardiography , Genetic Testing , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/metabolism , Humans , Male , Pedigree , Pericarditis, Constrictive/diagnosis , Pericarditis, Constrictive/metabolism , Proteoglycans/metabolism , Synovitis/diagnosis , Synovitis/metabolismABSTRACT
PURPOSE: The stress distribution of an ankle under various physiological conditions is important for long-term survival of total ankle arthroplasty. The aim of this study was to measure subchondral bone density across the distal tibial joint surface in patients with malalignment/instability of the lower limb. METHODS: We evaluated subchondral bone density across the distal tibial joint in patients with malalignment/instability of the knee by computed tomography (CT) osteoabsorptiometry from ten ankles as controls and from 27 ankles with varus deformity/instability of the knee. The quantitative analysis focused on the location of the high-density area at the articular surface, to determine the resultant long-term stress on the ankle joint. RESULTS: The area of maximum density of subchondral bone was located in the medial part in all subjects. The pattern of maximum density in the anterolateral area showed stepwise increases with the development of varus deformity/instability of the knee. CONCLUSIONS: Our results should prove helpful for designing new prostheses and determining clinical indications for total ankle arthroplasty.
