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 ha ve cardiac involvement and vascular aneurysms. However, the evidence f or valve lesions is inconsistent and often based on early clinical stu dies using mainly M-mode echo. We studied 33 patients (six male, 27 Fe male; 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. Echoca rdiographic examination included standard two-dimensional views from t he parasternal and apical windows, and measurement of the aorta at fou r sites (annulus, sinotubular junction, arch and abdominal aorta). Ech ocardiographic abnormalities were found in four patients (12.1%) (one atrial septal aneurysm, one tricuspid prolapse, two MVP) and two contr ols (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 w ere shown to have true MVP using current criteria. None of those with type IV EDS had any echocardiographic abnormality. No patients with ED S had mean aortic dimensions outside the normal range at any of the po ints tested. Cardiac symptoms were more frequent amongst the patients than controls (atypical chest pain 48%, P = 0.0001; palpitation 39%, P = 0.001; exertional dyspnoea 30%). A wide range of rheumatological co mplaints were reported (current arthralgia 75%; recent back pain 72%, P = 0.005; recurrent dislocation 72%). Contrary to earlier published o bservations, we have not found an increased incidence of cardiac abnor malities in EDS. This syndrome may be relatively more benign, from the cardiac point of view, than was previously thought.