Clinical and echocardiographic survey of the Ehlers-Danlos syndrome.
Cardiac abnormalities such as mitral valve prolapse (MVP) are reported to be common features of the Ehlers-Danlos syndrome (EDS), and it has been suggested that the majority of patients with type IV EDS will have cardiac involvement and vascular aneurysms.
However, the evidence for valve lesions is inconsistent and often based on early clinical studies using mainly M-mode echo.
We studied 33 patients (six male, 27 female ; median age 35 yr) with EDS (30 type I, II or III, three type IV) and 30 age-and sex-matched controls.
The study assessed skin stretch and joint hypermobility using Beighton and Contompasis scores.
Echocardiographic examination included standard two-dimensional views from the parasternal and apical windows, and measurement of the aorta at four sites (annulus, sinotubular junction, arch and abdominal aorta).
Echocardiographic abnormalities were found in four patients (12.1%) (one atrial septal aneurysm, one tricuspid prolapse, two MVP) and two controls (6.7%). MVP was found in 6.1% of EDS patients and 7% of controls.
Seven patients had previously been diagnosed as having MVP ; only two were shown to have true MVP using current criteria.
None of those with type IV EDS had any echocardiographic abnormality.
No patients with EDS had mean aortic dimensions outside the normal range at any of the points tested.
Cardiac symptoms were more frequent amongst the patients than controls (atypical chest pain 48%, P=0.0001 ; palpitation 39%, P=0. (...)
Mots-clés Pascal : Ehlers Danlos syndrome, Homme, Exploration clinique, Echocardiographie, Diagnostic, Complication, Prolapsus, Valvule mitrale, Incidence, Epidémiologie, Peau pathologie, Tissu élastique pathologie, Système ostéoarticulaire pathologie, Maladie système, Maladie héréditaire, Exploration ultrason, Appareil circulatoire pathologie, Cardiopathie valvulaire, Malformation
Mots-clés Pascal anglais : Ehlers Danlos syndrome, Human, Clinical investigation, Echocardiography, Diagnosis, Complication, Prolapsus, Mitral valve, Incidence, Epidemiology, Skin disease, Elastic tissue disease, Diseases of the osteoarticular system, Systemic disease, Genetic disease, Sonography, Cardiovascular disease, Cardiac valvular disease, Malformation
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0320089
Code Inist : 002B07. Création : 12/09/1997.