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DOI: 10.1055/s-2008-1052413
© Georg Thieme Verlag KG Stuttgart · New York
Normal Cardiac Contractility in Patients with Congenital Nemaline Myopathy
Publication History
Publication Date:
19 May 2008 (online)

Abstract
We made cardiac investigations in 12 patients aged 5-25 years with congenital nemaline myopathy by physical examination, electrocardiography, chest-X-ray and echocardiography to find out whether they showed signs of structural anomalies, specific heart muscle disease, conduction defects or cor pulmonale. One patient had a small ventricular septal defect and one had mitral valve prolapse, neither of which had caused haemodynamic alterations. In the other patients, cardiac findings were normal. Cardiac follow-up seems indicated, however, since cor pulmonale may develop in these patients because of their small vital capacity and restricted breathing movements.
Key words
Congenital myopathy - Nemaline (rod) myopathy - Cardiac contractility - Congenital heart disease - Mitral valve prolapse