Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis

CONCLUSIONS: The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.PMID:38523390 | DOI:10.24953/turkjped.2023.647
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Source Type: research